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α‐Thalassaemia in the population of Cyprus
Author(s) -
Baysal E.,
Kleanthous M.,
Bozkurt G.,
Kyrri A.,
Kalogirou E.,
Angastiniotis M.,
Ioannou P.,
Huisman T. H. J.
Publication year - 1995
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1995.tb08354.x
Subject(s) - microcytosis , genetics , biology , hemoglobinopathy , allele , loss of heterozygosity , medicine , disease , anemia , gene , iron deficiency
We have determined the α‐thalassaemia (α‐thal) determinants in 78 patients with Hb H disease from Cyprus; 25 were Turkish Cypriots and 53 were Greek Cypriots. Four deletional and three non‐deletional α‐thal alleles were present; the ‐α(3.7 kb) α‐thal‐2 and the — MED‐1 α‐thal‐1 were most frequently seen; — MED‐II and ‐(α) 20.5 deletions occurred at considerably lower frequencies. About 15% of all chromosomes carried a non‐deletional α‐thal‐2 allele; of these the 5 nucleotide (nt) deletion at the first intervening sequence (IVS‐I) donor splice site was present in ˜ 8% of all chromosomes. Two types of polyadenylation signal (poly A) mutations were observed. No striking frequency differences were seen between Greek and Turkish Cypriot patients. Combinations of the various types of α‐thal resulted in eight different forms of Hb H disease. The phenotypes were comparable except for great variations in the level of Hb H which was highest (average ˜ 22%) in the 12 patients with the α 5nt α/— MED‐I combination. One patient with the same form of Hb H disease but with an additional β‐thal (IVS‐I‐110, G → A) heterozygosity had a most severe microcytosis and hypochromia with < 1% Hb H. Variations in the level of Hb H might correlate with the severity of the disease, although this was not evident from the haematological data.