Question | Answer |
Definition of Hemoglobinopathies | Group of disorders passed down through families(inherited)in which there is abnormal production or structure of the hemoglobin molecule.Such disorders include hemoglobin C disease,hemoglobin SC disease, sickle cell anemia, and various types of thalassemia |
Hemoglobinopathies occurs as a result of one of these four abnormal functions | 1. A single amino acid substitution in one of the chains, the beta chain(SC trait/disease)
2. Abnormal synthesis of one of the amino acids (thalassemia)
3. Fusion of hemoglobin chains(Hgb Lepore)
4. Extension of an amino acid chain(Hgb Constant Spring) |
Sickle Cell Anemia | Variant and inheritance of beta chains to chromosome 11. Autosomal |
Dactylitis, fatigue, jaundice, dehydration, pain, priapism, retinopathy, and stroke | Symptoms of SC |
Age that SC Anemia can be diagnosed | Between 6 months to 2 years of age |
Chronic Hemolytic Anemia
Recurrent painful attacks
Bacterial infections
Deterioration of tissue and organ function
Shortened life expectancy | Categories of clinical considerations of SC Anemia |
Treatment of SC | Transfusion therapy, Stem Cell Transplantation, Bone marrow transplant, antibiotics, childhood vaccinations |
Asian, Senegal, Benin, Bantu | Haplotypes of the Sickle Cell Gene |
Hemoglobin Electrophoresis and Isoelectric Focusing | Methods used to test for the Sickle Cell trait or disease |
Sickle Cell Trait | Heterozygous inheritance of Hgb S. Able to lead normal lives but may suffer from a sickle cell crisis once or twice in their life when up at high altitudes. African Americans are at high risk |
Sickle Cell Disease | Milder clinical symptoms than SC anemia. Inherited homozygously from each parent. Normochromic and normocytic. |
Clinical considerations for SC Anemia | Chronic hemolytic anemia, painful attacks, bacterial infections, deterioration of tissue and organ function and shortened life expectantcy |
Hemoglobin S-Beta Thalassemia | -Produces the clinical picture of a sickle cell anemia, with no Hgb A present
- Microcytic, hypochromic, showing influence of thalassemia gene, with nRBCs, target cells, RDW and retic count are increased |
Hemoglobin E | -Common in East Asian people
-No clinical complications
-Electrophoresis is used to find the results |
Hemoglobin D Punjab | -Rare, affects mainly Indians and is highly accounted for in Great Britain.
-Asymptomatic
-Hemoglobin electrophoresis is used to test for this hemoglobin variant. |
Hemoglobin G Phila | -Predominant in African Americans
-High incidence of this variant in Ghana |
Hemoglobin O Arab | -Uncommon found in only 0.4% of African Americans
-Asymptomatic
-Citrate electrophoresis is used to distinguish this variant form the others |