Epidemiological profile of common haemoglobinopathies in Arab countries
- 8 December 2012
- journal article
- review article
- Published by Springer Science and Business Media LLC in Journal of Community Genetics
- Vol. 4 (2), 147-167
- https://doi.org/10.1007/s12687-012-0127-8
Abstract
Haemoglobinopathies including the thalassemias and sickle cell disease are known to be prevalent inherited disorders in most Arab countries with varying prevalence rates and molecular characterisation. β-thalassemia is encountered in polymorphic frequencies in almost all Arab countries with carrier rates of 1–11 % and a varying number of mutations. The most widespread mutation in Lebanon, Egypt, Syria, Jordan, Tunisia and Algeria is the IVS-I-110 (G>A). In the Eastern Arabian Peninsula, the Asian Indian mutations (IVS-I-5 (G>C), codons 8/9 (+G) and IVS-I (−25 bp del)) are more common. The α-thalassemias are encountered in the majority of Arab countries in frequencies ranging from 1 to 58 % with the highest frequencies reported from Gulf countries. The (−α3.7) mutation is the most frequent followed by the non-deletional α2 polyadenylation signal mutation (AATAAA>AATAAG) and the α2 IVS1 5-bp deletion. The rates of sickle cell trait in Arab countries range from 0.3 to 30 %, with the Benin, the Arab-Indian and the Bantu haplotypes constituting the bulk of the haplotypes, leading to two major phenotypes; a mild one associated with the Arab-Indian and a severe one with the Benin and Bantu haplotypes. Public health approaches targeting prevention of haemoglobinopathies in Arab countries include newborn screening for sickle cell disease, and premarital screening for carriers of β-thalassemia and sickle cell disease. These services are still patchy and inadequate in many Arab countries recommending the upgrade of these services with strengthening of the education and training of health care providers and raising public awareness on the feasibility of prevention and care for haemoglobinopathies.Keywords
This publication has 164 references indexed in Scilit:
- Newborn Screening Services in Bahrain between 1985 and 2010Advances in Hematology, 2012
- α-thalassaemiaOrphanet Journal of Rare Diseases, 2010
- PRENATAL DIAGNOSIS OF β-THALASSEMIA IN EGYPT: Implementing Accurate High-Tech Methods Did not Reflect Much on the OutcomePediatric Hematology and Oncology, 2008
- Genetic disorders in the Arab worldBMJ, 2006
- Sickle cell disease and pregnancy in BahrainInternational Journal of Gynecology & Obstetrics, 2006
- Molecular Characterization of β-Thalassemia in the Dohuk Region of IraqHemoglobin, 2006
- Spectrum of β‐thalassemia in Jordan: Identification of two novel mutationsAmerican Journal of Hematology, 2001
- Prenatal diagnosis of chromosome disorders in Tunisian populationAnnales de Genetique, 2001
- Molecular Defects in Beta-Thalassaemia in the Population of Saudi ArabiaHuman Heredity, 1995
- Molecular Characterization of α-Thalassemia Determinants, β-Thalassemia Alleles, and βs Haplotypes among Kuwaiti ArabsActa Haematologica, 1994