Anemia Falciforme

Descrição Geral

Definição

A anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types falciforme ( AF AF Atrial fibrillation (AF or Afib) is a supraventricular tachyarrhythmia and the most common kind of arrhythmia. It is caused by rapid, uncontrolled atrial contractions and uncoordinated ventricular responses. Atrial Fibrillation) é uma doença genética causada por uma molécula de Hb Hb The oxygen-carrying proteins of erythrocytes. They are found in all vertebrates and some invertebrates. The number of globin subunits in the hemoglobin quaternary structure differs between species. Structures range from monomeric to a variety of multimeric arrangements. Gas Exchange anormal ( Hb Hb The oxygen-carrying proteins of erythrocytes. They are found in all vertebrates and some invertebrates. The number of globin subunits in the hemoglobin quaternary structure differs between species. Structures range from monomeric to a variety of multimeric arrangements. Gas Exchange S) que transforma os eritrócitos em células em forma de foice, resultando em anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types crónica, episódios vaso-oclusivos, dor e danos em alguns órgãos

Epidemiologia

• Forma mais MAIS Androgen Insensitivity Syndrome comum de anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types hemolítica intrínseca em todo o mundo
• Ocorre em indivíduos cujas familias vieram da África Subsariana, Índia, Arábia Saudita ou países mediterrâneos
• Prevalência do traço falciforme (portador benigno heterozigótico):
  • 300 milhões de pessoas em todo o mundo
  • 2,5 milhões de pessoas nos Estados Unidos
• Incidência de traço falciforme:
  • 30% dos indivíduos na África Subsariana
  • 7,3% dos afro-americanos
• Igualmente presente em homens e mulheres

Etiologia

• A anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types falciforme é qualquer síndrome com uma mutação falciforme que altera conformação da beta globina normal:
  • Determinada pelo emparelhamento de alelos específicos
  • Herança autossómica recessiva
• Genótipo homozigoto = HbSS HbSS Sickle cell disease (SCD) is a group of genetic disorders in which an abnormal Hb molecule (HbS) transforms RBCs into sickle-shaped cells, resulting in chronic anemia, vasoocclusive episodes, pain, and organ damage. Sickle Cell Disease; causa anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types falciforme
• Condição heterozigótica = HbSA; condição de portador benigno chamada “traço falciforme”:
  • Apenas 1 alelo possui a mutação Hb Hb The oxygen-carrying proteins of erythrocytes. They are found in all vertebrates and some invertebrates. The number of globin subunits in the hemoglobin quaternary structure differs between species. Structures range from monomeric to a variety of multimeric arrangements. Gas Exchange S.
  • Importante para aconselhamento sobre o risco de ter um filho com AF AF Atrial fibrillation (AF or Afib) is a supraventricular tachyarrhythmia and the most common kind of arrhythmia. It is caused by rapid, uncontrolled atrial contractions and uncoordinated ventricular responses. Atrial Fibrillation
• Hemoglobinopatias com outra mutação do gene Gene A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. Basic Terms of Genetics da globina:
  • Ocorre com heterozigotos com Hb Hb The oxygen-carrying proteins of erythrocytes. They are found in all vertebrates and some invertebrates. The number of globin subunits in the hemoglobin quaternary structure differs between species. Structures range from monomeric to a variety of multimeric arrangements. Gas Exchange S de um dos pais PAIS Androgen Insensitivity Syndrome
  • Gravidade clínica variável em comparação com a mutação falciforme homozigótica ( HbSS HbSS Sickle cell disease (SCD) is a group of genetic disorders in which an abnormal Hb molecule (HbS) transforms RBCs into sickle-shaped cells, resulting in chronic anemia, vasoocclusive episodes, pain, and organ damage. Sickle Cell Disease)
  • Afeta os genes Genes A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. DNA Types and Structure alfa, beta ou gama-globina:
    • Talassemia beta falciforme: menos grave se a Hb Hb The oxygen-carrying proteins of erythrocytes. They are found in all vertebrates and some invertebrates. The number of globin subunits in the hemoglobin quaternary structure differs between species. Structures range from monomeric to a variety of multimeric arrangements. Gas Exchange S for combinada com talassemia beta-minor (alguma beta globina é produzida) do que com talassemia beta-major (nenhuma beta globina é produzida)
    • Doença HbSC: sintomas semelhantes a AF AF Atrial fibrillation (AF or Afib) is a supraventricular tachyarrhythmia and the most common kind of arrhythmia. It is caused by rapid, uncontrolled atrial contractions and uncoordinated ventricular responses. Atrial Fibrillation, mas menos graves

Fisiopatologia

A molécula de hemoglobina normal do adulto (HbA ₁ ) consiste em 2 pares de cadeias chamadas alfa e beta.

• A Hb Hb The oxygen-carrying proteins of erythrocytes. They are found in all vertebrates and some invertebrates. The number of globin subunits in the hemoglobin quaternary structure differs between species. Structures range from monomeric to a variety of multimeric arrangements. Gas Exchange S é produzida por uma mutação pontual no cromossoma 11, causando a substituição da valina (aminoácido) pelo ácido glutâmico na 6ª posição na cadeia da beta-globina.
• A Hb Hb The oxygen-carrying proteins of erythrocytes. They are found in all vertebrates and some invertebrates. The number of globin subunits in the hemoglobin quaternary structure differs between species. Structures range from monomeric to a variety of multimeric arrangements. Gas Exchange S é propensa à polimerização com outras moléculas de Hb Hb The oxygen-carrying proteins of erythrocytes. They are found in all vertebrates and some invertebrates. The number of globin subunits in the hemoglobin quaternary structure differs between species. Structures range from monomeric to a variety of multimeric arrangements. Gas Exchange em condições de baixa pressão de oxigénio.
• A polimerização por si só não é responsável pela fisiopatologia, mas leva a:
  • Uma estrutura celular rígida que distorce a forma e a funcionalidade da membrana dos eritrócitos
  • Dano membranar → influxo de cálcio, efluxo de potássio e água → desidrata o eritrócito → falciformização
  • Vaso-oclusão (oclusão microvascular): múltiplos mecanismos patofisiológicos, que se relacionam apenas parcialmente com o número de células irreversivelmente falciformizadas; outros factores incluem:
    • A tendência dos eritrócitos falciformes para aderir e activar o endotélio vascular, que expõe proteínas da matriz subendotelial (a título exemplificativo, laminina, trombospondina nas plaquetas e factor de von Willebrand) que, por sua vez, também aderem às células falciformes
    • A activação do factor tecidual macrofágico: pode activar células endoteliais e plaquetas, assim como iniciar a coagulação
    • A inflamação, com adesão de leucócitos ao endotélio e redução da velocidade do fluxo sanguíneo → aumento da falciformização dos eritrócitos
    • A redução do ácido nítrico, porque fica ligado à hemoglobina livre das células lisadas → contração das células do músculo liso vascular e agregação plaquetária
    • A hemólise em si é um importante factor pró-inflamatório, que pode elevar os níveis de trombospondina e o fator von Willebrand, que promovem a adesão dos eritrócitos ao endotélio
    • O início de um ciclo positivo (“vicioso”) de dano tecidual isquémico que promove mais MAIS Androgen Insensitivity Syndrome vaso-oclusão devido à produção de espécies reativas de oxigénio, causando inflamação e mais MAIS Androgen Insensitivity Syndrome activação plaquetária, recrutamento de leucócitos e activação endotelial.
  • A semi-vida dos eritrócitos que contêm Hb Hb The oxygen-carrying proteins of erythrocytes. They are found in all vertebrates and some invertebrates. The number of globin subunits in the hemoglobin quaternary structure differs between species. Structures range from monomeric to a variety of multimeric arrangements. Gas Exchange S é encurtada para 17 dias (normalmente 120 dias)
• A falciformização é agravada por condições de baixa pressão de oxigênio, incluindo:
  • Infeção
  • Desidratação
  • Hipóxia (e.g., grandes altitudes, distúrbios pulmonares, obstrução das vias aéreas)
  • Febre
  • Acidose

Apresentação Clínica

A maioria dos sintomas resulta da anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types e dos eventos vaso-oclusivos observados em indivíduos com AF AF Atrial fibrillation (AF or Afib) is a supraventricular tachyarrhythmia and the most common kind of arrhythmia. It is caused by rapid, uncontrolled atrial contractions and uncoordinated ventricular responses. Atrial Fibrillation ou complicações, incluindo infeções.

Anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types Falciforme ( HbSS HbSS Sickle cell disease (SCD) is a group of genetic disorders in which an abnormal Hb molecule (HbS) transforms RBCs into sickle-shaped cells, resulting in chronic anemia, vasoocclusive episodes, pain, and organ damage. Sickle Cell Disease)

• Crianças com AF AF Atrial fibrillation (AF or Afib) is a supraventricular tachyarrhythmia and the most common kind of arrhythmia. It is caused by rapid, uncontrolled atrial contractions and uncoordinated ventricular responses. Atrial Fibrillation geralmente são saudáveis ao nascer. Os sintomas desenvolvem-se depois dos 6 meses, quando os níveis de HbF começam a diminuir (proteção nos recém-nascidos)
• Manifestações agudas major :
  • Eventos vaso-oclusivos: apresentam-se repentinamente com dor intensa e enfarte do tecido afetado
  • Infeção:
    • Sépsis
    • Pneumonia Pneumonia Pneumonia or pulmonary inflammation is an acute or chronic inflammation of lung tissue. Causes include infection with bacteria, viruses, or fungi. In more rare cases, pneumonia can also be caused through toxic triggers through inhalation of toxic substances, immunological processes, or in the course of radiotherapy. Pneumonia
    • Meningite
  • Anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types
    • Episódio transitório de aplasia Aplasia Cranial Nerve Palsies: agravamento dos sintomas da anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types, púrpura, petéquias e sangramento da mucosa
    • Pode ser causado por infeção com parvovírus humano B19 → desaceleração transitória da eritropoiese da medula óssea
  • SNC: acidente vascular cerebral isquémico ou AIT AIT Type I Hypersensitivity Reaction
  • Pulmão:
    • Embolia pulmonar ou microembolia (eventualmente levando a hipertensão pulmonar) e fibrose pulmonar
    • Síndrome torácica aguda: dor no peito, febre, infiltrados pulmonares, hipoxemia
  • Rim:
    • Enfarte renal
    • LRA – lesão renal aguda
    • Hematúria ou proteinúria
    • Necrose papilar renal (necrose por coagulação das pirâmides medulares renais e papilas)
  • Ossos e articulações:
    • Dor nos ossos longos, mãos e pés, coluna, articulações
    • Necrose avascular Avascular Corneal Abrasions, Erosion, and Ulcers
    • Dactilite (inflamação dolorosa dos dedos das mãos e / ou dos pés)
  • Coração: SCA
  • Fígado:
    • Dor abdominal QSD
    • Icterícia devido ao aumento agudo do fígado / sequestro hepático
  • Olhos: oclusão da artéria retiniana, descolamento da retina Retina The ten-layered nervous tissue membrane of the eye. It is continuous with the optic nerve and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the choroid and the inner surface with the vitreous body. The outermost layer is pigmented, whereas the inner nine layers are transparent. Eye: Anatomy
  • Baço:
    • Crianças: aumentado, podem ter sangue acumulado causando dor abdominal QSE, fraqueza, hipotensão e choque (sequestro esplênico)
    • Adultos: a autoesplenectomia ocorre com o avançar da idade, levando a complicações infeciosas
  • GI: dor abdominal intensa, com ou sem vómito
  • Pénis: priapismo (ereção sustentada que dura> 4 horas); também pode ser visto em crianças com AF AF Atrial fibrillation (AF or Afib) is a supraventricular tachyarrhythmia and the most common kind of arrhythmia. It is caused by rapid, uncontrolled atrial contractions and uncoordinated ventricular responses. Atrial Fibrillation
• Principais manifestações crónicas:
  • Dor crónica devido a:
    • Enfarte do tecido
    • Osteonecrose
  • Infeção crónica:
    • Úlceras dos MIs
    • Osteomielite
  • Hemólise crónica (intravascular e extravascular) → anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types:
    • Fadiga
    • Palidez
    • Taquicardia
    • Atraso cognitivo e crescimento retardado nas crianças
    • A deficiência de folato pode piorar a anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types crónica.
  • Osteoporose
  • Cegueira por retinopatia crónica
  • A hemólise de eritrócitos pode causar cálculos biliares pigmentados.
• Complicações:
  • Eventos vaso-oclusivos recorrentes e enfartes do tecido → dano em órgãos:
  • A síndrome torácica aguda pode ser fatal; é a causa mais MAIS Androgen Insensitivity Syndrome comum de morte em pacientes com AF AF Atrial fibrillation (AF or Afib) is a supraventricular tachyarrhythmia and the most common kind of arrhythmia. It is caused by rapid, uncontrolled atrial contractions and uncoordinated ventricular responses. Atrial Fibrillation.
  • Coração: cor pulmonale Cor Pulmonale Cor pulmonale is right ventricular (RV) dysfunction caused by lung disease that results in pulmonary artery hypertension. The most common cause of cor pulmonale is chronic obstructive pulmonary disease. Dyspnea is the usual presenting symptom. Cor Pulmonale e insuficiência cardíaca
  • Rim: DRC, hipertensão
  • Musculoesquelético: osteonecrose, osteoporose e baixa estatura em crianças
  • Infeções:
    • Aumento do risco de infeção por bactérias encapsuladas (por exemplo, Streptococcus Streptococcus Streptococcus is one of the two medically important genera of gram-positive cocci, the other being Staphylococcus. Streptococci are identified as different species on blood agar on the basis of their hemolytic pattern and sensitivity to optochin and bacitracin. There are many pathogenic species of streptococci, including S. pyogenes, S. agalactiae, S. pneumoniae, and the viridans streptococci. Streptococcus pneumoniae, Haemophilus influenzae Haemophilus Influenzae A species of Haemophilus found on the mucous membranes of humans and a variety of animals. The species is further divided into biotypes I through viii. Haemophilus, Neisseria meningitidis Neisseria meningitidis A species of gram-negative, aerobic bacteria. It is a commensal and pathogen only of humans, and can be carried asymptomatically in the nasopharynx. When found in cerebrospinal fluid it is the causative agent of cerebrospinal meningitis. It is also found in venereal discharges and blood. There are at least 13 serogroups based on antigenic differences in the capsular polysaccharides; the ones causing most meningitis infections being a, b, c, y, and w-135. Each serogroup can be further classified by serotype, serosubtype, and immunotype. Neisseria ) devido à perda da função esplénica
    • Hepatite
    • Osteomielite
    • Artrite sética
    • Pneumonia Pneumonia Pneumonia or pulmonary inflammation is an acute or chronic inflammation of lung tissue. Causes include infection with bacteria, viruses, or fungi. In more rare cases, pneumonia can also be caused through toxic triggers through inhalation of toxic substances, immunological processes, or in the course of radiotherapy. Pneumonia
    • Meningite
    • Sépsis

Traço falciforme ( HbSA HbSA The condition of being heterozygous for hemoglobin s. Sickle Cell Disease)

• Geralmente assintomático ou apenas sintomas leves
• Pode ter hematúria indolor devido à necrose papilar renal
• Diminuição (hipostenúria) ou perda de (isostenúria) capacidade de concentrar a urina
• Raramente:
  • Episódio agudo de falciformização, rabdomiólise e morte, se exposto a grandes altitudes, desidratação extrema ou exercício
  • Doença renal crónica
  • Embolia pulmonar
  • Carcinoma medular raro do rim
• Benefício do traço falciforme: melhora a sobrevida caso ocorra infeção por malária concomitantemente.
• Os homozigotos ( HbSS HbSS Sickle cell disease (SCD) is a group of genetic disorders in which an abnormal Hb molecule (HbS) transforms RBCs into sickle-shaped cells, resulting in chronic anemia, vasoocclusive episodes, pain, and organ damage. Sickle Cell Disease) não têm benefícios – são prejudicados por infeções como a malária, que piora a anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types pré-existente.

Diagnóstico

A doença falciforme é geralmente diagnosticada no rastreio pré-natal ou ao nascimento, pelo rastreio neonatal. Os métodos variam de país para país.

• Exames complementares diagnóstico:
  • Pré-natal:
    • PCR PCR Polymerase chain reaction (PCR) is a technique that amplifies DNA fragments exponentially for analysis. The process is highly specific, allowing for the targeting of specific genomic sequences, even with minuscule sample amounts. The PCR cycles multiple times through 3 phases: denaturation of the template DNA, annealing of a specific primer to the individual DNA strands, and synthesis/elongation of new DNA molecules. Polymerase Chain Reaction (PCR) ou teste direto de DNA DNA A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine). DNA Types and Structure
    • O screening Screening Preoperative Care genético pode ser realizada em amostras de vilosidades coriónicas entre as 8-12 semanas de gestação
  • Triagem neonatal universal em todos os 50 estados dos EUA:
    • O reconhecimento precoce dos recém-nascidos afetados reduziu a morbilidade por infeções
    • Penicilina profilática e cuidados médicos regulares reduziram significativamente a mortalidade nas crianças
    • Métodos: eletroforese de Hb Hb The oxygen-carrying proteins of erythrocytes. They are found in all vertebrates and some invertebrates. The number of globin subunits in the hemoglobin quaternary structure differs between species. Structures range from monomeric to a variety of multimeric arrangements. Gas Exchange, focagem isoelétrica ou cromatografia líquida de alto desempenho (HPLC) seguida de sequenciamento de DNA DNA A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine). DNA Types and Structure se anormal
  • Crianças e adultos:
    • Indivíduos com sinais ou sintomas
    • Indivíduos com história familiar de doença falciforme
    • Eletroforese de Hb Hb The oxygen-carrying proteins of erythrocytes. They are found in all vertebrates and some invertebrates. The number of globin subunits in the hemoglobin quaternary structure differs between species. Structures range from monomeric to a variety of multimeric arrangements. Gas Exchange diferencia homozigóticos de heterozigóticos (portadores)
• Padrões de eletroforese de Hb Hb The oxygen-carrying proteins of erythrocytes. They are found in all vertebrates and some invertebrates. The number of globin subunits in the hemoglobin quaternary structure differs between species. Structures range from monomeric to a variety of multimeric arrangements. Gas Exchange:
  • Em pacientes com genótipo HbSS HbSS Sickle cell disease (SCD) is a group of genetic disorders in which an abnormal Hb molecule (HbS) transforms RBCs into sickle-shaped cells, resulting in chronic anemia, vasoocclusive episodes, pain, and organ damage. Sickle Cell Disease:
    • O padrão HbFS sugere doença falciforme
    • Sem HbA ₁ ou HbA ₂ presente
  • O padrão de HbFSA sugere um estado complexo envolvendo uma mutação falciforme
    • Talassemia beta falciforme
    • Doença HbSC
  • O padrão HbFAS sugere traço falciforme
• Resultados do Hemograma:
  • Anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types hemolítica crónica compensada com AF AF Atrial fibrillation (AF or Afib) is a supraventricular tachyarrhythmia and the most common kind of arrhythmia. It is caused by rapid, uncontrolled atrial contractions and uncoordinated ventricular responses. Atrial Fibrillation ( HbSS HbSS Sickle cell disease (SCD) is a group of genetic disorders in which an abnormal Hb molecule (HbS) transforms RBCs into sickle-shaped cells, resulting in chronic anemia, vasoocclusive episodes, pain, and organ damage. Sickle Cell Disease):
    • Nível de hemoglobina aproximadamente de 8,0–10,0 g / dL (normal: 12,0–15,5 g / dL para mulheres, 13,5–17,5 g / dL para homens)
    • Hematócrito aproximadamente de 20 %–30% (normal: 36 %–44% para mulheres, 41 %–50% para homens)
    • VCM normal
    • ↑ leucócitos
  • Esfregaço de sangue periférico:
    • Células falciformes
    • Corpos de Howell-Jolly em indivíduos com autoesplenectomia (eritrócitos imaturos com remanescentes nucleares basofílicos)
    • Reticulócitos
    • Células-alvo com doença HbSC
• Outros exames
  • ↑↑ Contagem de reticulócitos
  • ↓ Velocidade de sedimentação eritrocitária (VS)
  • ↑ Bilirrubina
  • ↑ Ureia, ↑ creatinina
  • Testes Testes Gonadal Hormones de função hepática: ↑ AST AST Enzymes of the transferase class that catalyze the conversion of l-aspartate and 2-ketoglutarate to oxaloacetate and l-glutamate. Liver Function Tests / ALT ALT An enzyme that catalyzes the conversion of l-alanine and 2-oxoglutarate to pyruvate and l-glutamate. Liver Function Tests

Abordagem

O tratamento dos episódios dolorosos inclui analgésicos e medidas gerais de suporte. As transfusões podem ser necessárias, ocasionalmente, se o indivíduo se apresentar com anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types sintomática, incluindo na complicação da síndrome torácica aguda.

Tratamento

• Hidroxiureia para prevenção e tratamento de eventos vaso-oclusivos:
  • Mecanismo de ação:
    • Aumenta os níveis de HbF, o teor de água nos eritrócitos e a deformabilidade das células falciformes
    • Altera a adesão dos eritrócitos ao endotélio
  • Reduz a dor e outras complicações vaso-oclusivas
  • Diminui as taxas de hospitalização
  • Melhora a sobrevivência
• Prevenção de infeções:
  • Vacinações apropriadas para a idade:
    • S. pneumonia Pneumonia Pneumonia or pulmonary inflammation is an acute or chronic inflammation of lung tissue. Causes include infection with bacteria, viruses, or fungi. In more rare cases, pneumonia can also be caused through toxic triggers through inhalation of toxic substances, immunological processes, or in the course of radiotherapy. Pneumonia (conjugado pneumocócico e vacinas polissacarídicas)
    • Influenza Influenza Influenza viruses are members of the Orthomyxoviridae family and the causative organisms of influenza, a highly contagious febrile respiratory disease. There are 3 primary influenza viruses (A, B, and C) and various subtypes, which are classified based on their virulent surface antigens, hemagglutinin (HA) and neuraminidase (NA). Influenza typically presents with a fever, myalgia, headache, and symptoms of an upper respiratory infection. Influenza Viruses/Influenza sazonal
    • N. meningitidis N. meningitidis A species of gram-negative, aerobic bacteria. It is a commensal and pathogen only of humans, and can be carried asymptomatically in the nasopharynx. When found in cerebrospinal fluid it is the causative agent of cerebrospinal meningitis. It is also found in venereal discharges and blood. There are at least 13 serogroups based on antigenic differences in the capsular polysaccharides; the ones causing most meningitis infections being a, b, c, y, and w-135. Each serogroup can be further classified by serotype, serosubtype, and immunotype. Neisseria
    • H. influenzae H. influenzae A species of Haemophilus found on the mucous membranes of humans and a variety of animals. The species is further divided into biotypes I through VIII. Haemophilus tipo b (Hib)
    • Hepatite B
  • Profilaxia com penicilina:
    • Começa nos primeiros 3 meses de vida.
    • Eritromicina em caso de alergia à penicilina
    • Continua a profilaxia até os 5 anos de idade.
• Suplementação com ácido fólico
• Indicações para transfusão:
  • Anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types sintomática
  • pré-operatório
  • AVC agudo
  • Falha multiorgânica
  • Síndrome torácico agudo
  • Priapismo recorrente
• O transplante de células estaminais hematopoéticas é a única tratamento curativo
• Tratamentos não usados para episódios vaso-oclusivos agudos:
  • O ₂ : a menos que a saturação esteja abaixo da linha de base ou haja sintomas pulmonares
  • Gelo: pode precipitar falciformização
  • Meperidina: associada a acumulação de metabolitos, e pode levar a convulsões
  • Cetorolac: devido à toxicidade
  • Transfusão para dor vasooclusiva aguda sem anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types sintomática
  • Fator estimulador de colónias de granulócitos (G-CSF): devido ao risco de falência multiorgânica e morte (com raras exceções)

Complicações e Prognóstico

• Síndrome torácica aguda: nova radiodensidade na radiografia do tórax acompanhada de febre e/ou sintomas respiratórios
  • Fisiopatologia: geralmente ocorre vaso-oclusão na microvasculatura pulmonar devido a embolias gordurosas causadas por um enfarte da medula óssea
  • Uma das principais causas de morte em doentes com anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types falciforme; mais MAIS Androgen Insensitivity Syndrome grave em adultos
  • Necessita de uma abordagem rápida para prevenir a deterioração clínica e a morte
• Prognóstico:
  • A sobrevivência dos indivíduos com anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types falciforme melhorou drasticamente nos últimos 40 anos nos EUA.
  • A principal causa de morte deixou de ser a infeção para passar a ser por lesão de orgão alvo.
  • A esperança média de vida dos adultos com anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types falciforme é ≥ 20 anos, mais MAIS Androgen Insensitivity Syndrome curta do que a dos afro-americanos sem anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types falciforme que vivem nos EUA.

Diagnóstico Diferencial

• Anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types hemolítica: grupo de condições definidas pela degradação dos eritrócitos, redução dos níveis de hemoglobina e reticulocitose. A anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types falciforme é uma forma de anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types hemolítica com episódios vaso-oclusivos. Outras causas de anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types hemolítica devem ser consideradas no diagnóstico diferencial.
  • Talassemia: deficiência hereditária na cadeia alfa ou beta-globina, resultando em anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types hipocrómica. A apresentação é principalmente com anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types grave e os indivíduos mais MAIS Androgen Insensitivity Syndrome gravemente afetados são dependentes de transfusão. O diagnóstico é confirmado por eletroforese de Hb Hb The oxygen-carrying proteins of erythrocytes. They are found in all vertebrates and some invertebrates. The number of globin subunits in the hemoglobin quaternary structure differs between species. Structures range from monomeric to a variety of multimeric arrangements. Gas Exchange. O tratamento inclui suplementação de folato, transfusões, quelação de ferro e esplenectomia.
  • Anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types hemolítica autoimune: tipo raro de anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types imunomediada e destruição de eritrócitos pelo baço. A apresentação é com sintomas de hemólise e o diagnóstico é feito por um teste de Coombs positivo. O tratamento envolve cuidados de suporte, remoção do agente incitante, uso de esteróides, agentes imunossupressores e esplenectomia em casos refratários.
  • Esferocitose hereditária: tipo mais MAIS Androgen Insensitivity Syndrome comum de anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types hemolítica hereditária. A esferocitose hereditária é causada por uma anormalidade na proteína da membrana dos eritrócitos, resultando em eritrócitos com formato esférico que ficam sequestrados no tecido esplênico. A apresentação é com hemólise, anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types, icterícia e esplenomegalia. O tratamento é feito com esplenectomia.
  • Deficiência de G6PD G6PD Pentose Phosphate Pathway: tipo de anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types hemolítica intravascular. Os indivíduos apresentam hemólise episódica devido a um stressor oxidativo identificado que causa danos aos eritrócitos e apresenta sinais clássicos de hemólise e anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types. O diagnóstico é feito com testes Testes Gonadal Hormones laboratoriais; o esfregaço de sangue periférico pode mostrar corpos de Heinz e células mordidas. O tratamento inclui evitar triggers oxidativos e transfusão, se necessário.
  • Hemoglobinúria paroxística noturna: mutação adquirida que leva à anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types hemolítica intravascular que é Coombs-negativa e episódica. A apresentação é com a tríade clássica de anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types hemolítica, insuficiência da medula óssea e trombofilia. Os indivíduos também podem ter insuficiência renal progressiva com risco muito alto de trombose em locais atípicos. Os indivíduos podem ser tratados com o anticorpo monoclonal eculizumab ou com o transplante de células-estaminais.
• Doença de Gaucher (DG): doença hereditária que leva ao acúmulo de substratos glicolipídicos não degradados nas células e em certos órgãos, resultando em enfarte da medula óssea e esplenomegalia. Esses sintomas contrastam com o enfarte esplénico visto em pacientes com AF AF Atrial fibrillation (AF or Afib) is a supraventricular tachyarrhythmia and the most common kind of arrhythmia. It is caused by rapid, uncontrolled atrial contractions and uncoordinated ventricular responses. Atrial Fibrillation. Os sintomas da DG são hematomas, letargia, anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types e hepatoesplenomegalia. O diagnóstico é baseado na suspeita clínica e confirmado pela medição da atividade da glicocerebrosidase. O tratamento é de suporte, com terapia de reposição enzimática para os sintomas e para melhorar a qualidade de vida.