Abstract:
:The sickle-cell gene contributes substantially to the presentation of anaemia in certain areas of the Arabian Peninsula. However, the clinical presentation of the homozygous state of Hb S is less severe than that observed in other ethnic groups, such as American negroes. In the present paper, biosynthesis studies performed on reticulocytes from heterozygotes and homozygotes for the Hb S give further indications of the mild nature of sickle-cell disease in Arabia. Comparison of two affected families, from Saudi Arabia and Jordan, showed that clinical manifestation of the disease is mirrored by the biochemical and haematological findings in affected individuals. The results are discussed in terms of the effect of co-existing thalassaemia and/or iron deficiency with Hb S. It is suggested that both genetic and acquired conditions play a role in the clinical features of the disease. The mechanisms responsible for regulation of alpha-chain synthesis by iron (haem) deficiency are discussed.
journal_name
Hum Genetjournal_title
Human geneticsauthors
El-Hazmi MAdoi
10.1007/BF00278681subject
Has Abstractpub_date
1979-01-01 00:00:00pages
323-35issue
3eissn
0340-6717issn
1432-1203journal_volume
52pub_type
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