Haemoglobinopathies, thalassaemias and enzymopathies in Saudi Arabia: the present status.

Abstract:

:The presence of the sickle cell (Hb S) gene in Saudi Arabia was first reported by Lehmann et al. in 1963 [Nature 198, pp. 492-493]. Later, Hb S, alpha- and beta-thalassaemia, glucose-6-phosphate dehydrogenase deficiency and other enzymopathies were shown to occur at a variable prevalence in different regions of the country. Recent studies using restriction endonucleases have revealed alpha-globin gene arrangement and beta-globin gene polymorphism in the Saudi population. Interactions between abnormal genes are commonly encountered which often influence the clinical manifestations of sickle cell disease. In this paper, we present recent findings and discuss the status of haemoglobinopathies, thalassaemias and enzymopathies in Saudi Arabia.

journal_name

Acta Haematol

journal_title

Acta haematologica

authors

el-Hazmi MA

doi

10.1159/000205861

subject

Has Abstract

pub_date

1987-01-01 00:00:00

pages

130-4

issue

2-3

eissn

0001-5792

issn

1421-9662

journal_volume

78

pub_type

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