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Hemoglobinopathies

group of disorders passed down through families (inherited)

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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
Created by: Kenzie_white
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