| Hemoglobin C | |
|---|---|
| Classification and external resources | |
| ICD-10 | D58.2 |
| ICD-9 | 282.7 |
| DiseasesDB | 29693 |
| MeSH | D006445 |
Hemoglobin C (abbreviated as Hb C or HbC) is an abnormal hemoglobin with substitution of a lysine residue for a glutamic acid residue at the 6th position of the β-globin chain.[1]
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This mutated form reduces the normal plasticity of host erythrocytes causing a hemoglobinopathy. In those who are heterozygous for the mutation, about 28–44% of total hemoglobin (Hb) is HbC, and no anemia develops.
In homozygotes, nearly all Hb is in the HbC form, resulting in mild hemolytic anemia.[2]
Target cells, microspherocytes and HbC crystals are found in a blood smear from a homozygous patient.
Individuals heterozygous for both HbC and Hb S (Hb Sickle-cell disease) or for HbC and thalassemia are known, and have atypical hemolytic anemias; sickling is enhanced in Hb SC disease.
Hemoglobin C gene is found in 2-3% of US Blacks while 8% of US Blacks have hemoglobin S (Sickle) gene. Thus Hemoglobin SC disease is significantly more common than Hemoglobin CC disease. Hemoglobin C is found predominantly in Yorubas (A profile of sickle cell disease in Nigeria By O.O Akinyanju, Department of Medicine University of Lagos). It is also found in areas of West Africa, such as Ghana, where Yorubas once lived (MAN Volume 56 March 1956 pages 34-36)[3]
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