Homozygous sickle cell anaemia (SCA) is an inherited red blood cell disorder in which haemoglobin A is replaced by haemoglobin S. The disease exhibits a wide spectrum of clinical behaviour which has been well described in neighbouring countries. In Jordan, however, the disease has never been characterized. We used reviews of patients' notes and clinic interviews at Princess Badi'a Teaching Hospital, Irbid, Jordan to describe the clinical presentation of the disease in our area. The total number of patients was 41 (28 boys and 13 girls) and the median age was 9 years (range 1.5-21). The median age at presentation was 2.5 years (range 0.5-11). The commonest presenting feature was pallor (62%). An unusual feature of the disease in this series is the presence of a palpable spleen in 44% of patients older than 8 years. Associated G6PD deficiency was present in 29% of boys. Different clinical patterns of SCA were observed. Haemoglobin F is unlikely to be an explanation for this variability since it has not been shown to correlate with a number of severity indices of the disease such as the frequency of blood transfusions, hospitalizations and painful crises. Although the disease haplotype is not known in Jordan, our geographical location between Asia and Africa may suggest the presence of more than one haplotype and consequently different clinical patterns.
Wecollaborated with researchers from Egypt, Syrian Arab Republic and Jordan in a study of patients with sickle-cell disease from those countries, and from various parts of Saudi Arabia, in order to investigate the influence of genetics on the clinical presentation of the disease, and to attempt to determine the origin of the sickle-cell gene in Arabs. Our results suggest that beta-globin gene haplotypes influence the clinical presentation of sickle-cell disease, and that there are at least two major foci for the origin of the sickle-cell gene, one in the eastern part of Saudi Arabia, and the other in the populations of North Africa and the north-western part of the Arabian peninsula
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