Sickle cell disease

Several genotypes fall within the definition of sickle cell disease. Inheritance of the sickle cell gene from both parents results in homozygous sickle cell disease. Inheritance of the sickle cell gene from one parent and another abnormal gene, such as that for hemoglobin C (HbC), b "-thalassemia, or b°- thalassemia, from the other results in sickle cell-HbC disease, sickle cell-b "-thalassemia, or sickle cell-b°- thalassemia. These conditions manifest HbS levels of 50 to 98 per cent, which are sufficient to cause problems under normal physiological conditions. Sickle cell-HbC disease with 50 to 55 per cent HbS and sickle cell-b "-thalassemia with 65 to 75 per cent HbS generally have mild manifestations, whereas homozygous sickle cell disease and sickle cell-b°-thalassemia with 80 to 98 per cent HbS are ariable but generally severe. The relative frequencies of these major genotypes at birth in Jamaica are shown in Table,!.

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