Molecular Basis of Thalassemia in Qatar

Al-Obaidli, Aisha; Hamodat, Mowafak; Fawzi, Z. O.; Abulaban, M.; Gérard, Nathalie; Krishnamoorthy, Rajagopal

doi:10.1080/03630260701288815

Cited by 10 publications

(2 citation statements)

References 24 publications

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“…The frequencies of three other common mutant alleles, IVS-2-1 (G>A), 25bp deletion and IVS-1-110 (G>A) are higher in surrounding locations, such as Southern Iran, Kuwait, eastern Saudi Arabia and Bahrain. 38 …”

Section: Most Common β-Thalassemia Variants In the Mediterranean Beltmentioning

confidence: 99%

β-thalassemia distribution in the old world: a historical standpoint of an ancient disease

Sanctis¹,

Kattamis

Canatan³

et al. 2017

Mediterr J Hematol Infect Dis

255

158

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BackgroundHaemoglobinopathies constitute the commonest recessive monogenic disorders worldwide, and the treatment of affected individuals presents a substantial global disease burden. β-thalassaemia is characterised by the reduced synthesis (β+) or absence (βo) of the β-globin chains in the HbA molecule, resulting in accumulation of excess unbound α-globin chains that precipitate in erythroid precursors in the bone marrow and in the mature erythrocytes, leading to ineffective erythropoiesis and peripheral haemolysis. Approximately 1.5% of the global population are heterozygotes (carriers) of the β-thalassemias; there is a high incidence in populations from the Mediterranean basin, throughout the Middle East, the Indian subcontinent, Southeast Asia, and Melanesia to the Pacific Islands.AimThe principal aim of this paper is to review, from a historical standpoint, our knowledge about an ancient disease, the β-thalassemias, and in particular, when, how and in what way β-thalassemia spread worldwide to reach such high incidences in certain populations.ResultsMutations involving the β-globin gene are the most common cause of genetic disorders in humans. To date, more than 350 β-thalassaemia mutations have been reported. Considering the current distribution of β- thalassemia, the wide diversity of mutations and the small number of specific mutations in individual populations, it seems unlikely that β-thalassemia originated in a single place and time.ConclusionsVarious processes are known to determine the frequency of genetic disease in human populations. However, it is almost impossible to decide to what extent each process is responsible for the presence of a particular genetic disease. The wide spectrum of β-thalassemia mutations could well be explained by looking at their geographical distribution, the history of malaria, wars, invasions, mass migrations, consanguinity, and settlements. An analysis of the distribution of the molecular spectrum of haemoglobinopathies allows for the development and improvement of diagnostic tests and management of these disorders.

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Section: Most Common β-Thalassemia Variants In the Mediterranean Beltmentioning

confidence: 99%

β-thalassemia distribution in the old world: a historical standpoint of an ancient disease

Sanctis¹,

Kattamis

Canatan³

et al. 2017

Mediterr J Hematol Infect Dis

255

158

View full text Add to dashboard Cite

show abstract

“…Although the spectrum of β-thal mutations in the Arab region is highly diversified and mostly shared with other ethnic groups, we identified six HBB gene mutations that our search strategy identified as unique to Arabs ( Table 1) is associated with both β-thal intermedia and major in Iran [61], as well as in Saudi Arabia and Palestine [52,51], while it causes β-thal major in United Arab Emirates, Syria, Lebanon, Algeria and Qatar [54,59,50,53,45], and it is linked with β-thal intermedia in Iraq and Kuwait [21,55]. The c.27dupG is associated with β-thal major in Saudi, Syria, Qatar [58,22,45], while in Iraq it causes β-thal intermedia and it is associated with both β-thal intermedia and major in Palestine, Egypt [44,23].…”

Section: Unique Mutations In Arabsmentioning

confidence: 99%