Hemoglobinopathy |
Clinical Assessment |
Treatment |
Sickle Cell Disease |
- Chronic anaemia, vaso-occlusive crises, pain episodes
- Infections, acute chest syndrome, splenic sequestration
- Jaundice, fatigue, delayed growth in children
- Diagnostic tests: Hemoglobin electrophoresis, sickle solubility test
|
- Hydroxyurea to reduce crises
- Blood transfusions for severe anaemia
- Pain management: NSAIDs, opioids during crises
- Bone marrow transplant in severe cases
- Vaccinations and antibiotics (e.g., penicillin) to prevent infections
- Supportive care: hydration, oxygen therapy
|
Thalassaemia Major (Cooley's Anaemia) |
- Severe anaemia, failure to thrive, pallor
- Hepatosplenomegaly, bone deformities
- Fatigue, jaundice
- Diagnostic tests: Haemoglobin electrophoresis, complete blood count
|
- Regular blood transfusions to maintain hemoglobin levels
- Iron chelation therapy (e.g., deferoxamine) to prevent iron overload
- Folic acid supplementation
- Bone marrow or stem cell transplant for curative treatment
- Monitoring for complications like heart and liver disease
|
Haemoglobin C Disease |
- Mild hemolytic anaemia, splenomegaly
- Joint pain, occasional gallstones
- Diagnostic tests: Hemoglobin electrophoresis
|
- Usually no treatment required for mild cases
- Folic acid supplementation to support red blood cell production
- Pain management during joint pain episodes
|
Hemoglobin E Disease |
- Mild anaemia, mild splenomegaly
- Usually asymptomatic but may present with fatigue
- Diagnostic tests: Hemoglobin electrophoresis
|
- No specific treatment required for mild cases
- Regular monitoring for anaemia and related symptoms
- In rare severe cases: blood transfusions
|
Beta-Thalassemia Intermedia |
- Mild to moderate anaemia
- Bone deformities, growth delays
- Fatigue, splenomegaly
- Diagnostic tests: Hemoglobin electrophoresis, genetic testing
|
- Blood transfusions during periods of increased anaemia
- Folic acid supplementation
- Iron chelation therapy if iron overload occurs
- Bone marrow transplant in severe cases
|