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Hemoglobin C:
beta globin mutation (glutamine to lysine at position 6)
It is found is about 3% of African Americans.
Patients who are homozygote for hemoglobin C are clinically OK!!
Peripheral Blood Smear: TARGET CELLS, NORMAL MCV.
Hemoglobin SC Disease:
Patients in this condition have no normal beta chain.
One beta-s & one beta-C!
Diagnosis of Hemoglobin SC Disease:
Hemoglobin C migrates in the position of Hemoglobin A2 in the routine gel electrophoresis.
Need to use column gel....
Peripheral blood smear: TARGET CELLS as well as SICKLE CELLS
Clinical Features of Hemoglobin SC Disease:
Fairly similar to Sickle cell disease.
However:
1. Patients have higher hematocrits
2. Patients have less hemolysis
3. Patients have less painful episodes and infections
4. HIGHER frequency of retinopathy
5. HIGHER frequency of splenomegaly
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