Molecular characterization of the compound heterozygous condition – Gγ(Aγδβ)o/β-thalassemia – in four families showing mild β-thalassemia intermedia was carried out using DNA amplification techniques. Using the Amplification Refractory Mutation System (ARMS) to confirm the β-mutations and DNA amplification to detect the 100-kb Chinese-specific Gγ(Aγδβ)o-deletion, two families were confirmed to possess Gγ(Aγδβ)o/β-thalassemia with the IVSII No. 654 β+-allele. In the third family, the Gγ(Aγδβ)o-deletion was confirmed in the father and the mother was a β-thalassemia carrier with the cd 41–42 βo-allele. Their affected child with Gγ(Aγδβ)o/β-thalassemia was found to be transfusion dependent. The same Gγ(Aγδβ)o-deletion and β-thalassemia (cd 41–42) was also confirmed in a fourth family. In addition, the mother was also diagnosed with Hb H disease (genotype -α3.7/–SEA). Both the children were found to possess Gγ(Aγδβ)o/β-thalassemia but they were not transfusion dependent and this could be due to co-inheritance of α-thalassemia-2 (genotype-α3.7/αα) in the children together with their compound heterozygous condition.

George E, Li HJ, Huisman THJ: Types of thalassemia among patients attending a large university clinic in Kuala Lumpur, Malaysia. Hemoglobin 1992;16:51–66.
Thong MK, Law HY, Ng ISL: Molecular heterogeneity of β-thalassaemia in Malaysia: A practical approach to diagnosis. Ann Acad Med (Singapore) 1996;25:79–83.
George E: Thalassaemia carrier diagnosis in Malaysia. SP-Muda Printing Sdn. Bhd, 1996.
Tan JAMA, Yap SF, Tan KL, Thong MK: The use of the amplification refractory mutation system (ARMS) as an effective and economical tool for prenatal diagnosis of β-thalassaemia in Malaysian subjects. Int Med Res J 1998;2:65–68.
Bunn HF, Forget BG: Hemoglobin: Molecular, Genetic and Clinical Aspects. Philadelphia, Saunders, 1986.
Dimovski AJ, Divoki V, Adekile AD: A novel deletion of 27 kb including the β-globin gene and the locus control region 3′HS-1 regulatory sequence: βo-thalassemia or hereditary persistence of fetal hemoglobin. Blood 1994;83:822–827.
Rochette J, Craig JE, Thein SL: Fetal hemoglobin Levels in Adults. Blood Rev 1994 8:213–224.
George E, Faridah K, Trent RJ, Padanilam BJ, Huang HJ, Huisman THJ: Homozygosity for a new Gγ(Aγδβ)o-thalassemia in a Malaysian male. Hemoglobin 1986;10:353–364.
Zhang JW, Song WF, Yan JZ, Zhao YZ, Wu GY, Qiu ZM, Wang FN, Chen SS, Stamatoyannopoulos G: Molecular characterization of a novel form of (Aγδβ)o-thalassemia deletion in a Chinese family. Blood 1993;81:1624–1629.
Anagnou NP, Papayannopoulou T, Nienhuis AW, Stamatoyannopoulos G: Molecular characterization of a novel form of (Aγδβ)o-thalassemia deletion with a 3′-breakpoint close to those of HPFH-3 and HPFH-4: Insights for a common regulatory mechanism. Nucleic Acids Res 1988;16:6057–6066.
Winnichagoon P, Fucharoen S, Tonglairoam V, Wasi P: Thai G γ(Aγδβ)o-thalassemia and its interaction with a single γ-globin gene on a chromosome carrying β-thalassemia. Hemoglobin 1990;14:185–197.
Losekoot M, Fodde R, Gerritsen, Van de Kuit I, Schreuder A, Giordano PC, Vossen JM, Bernini LF: Interaction of two different disorder in the β-globin gene cluster associated with an increased hemoglobin F production: A novel deletion type of Gγ+(Aγδβ)o-thalassemia and a δo-hereditary persistence of fetal hemoglobin determinant. Blood 1991;77:861–867.
Betke K, Marti HR, Schlicht I: Estimation of small percentages of foetal haemoglobin. Nature 1959;184:1877–1878.
Old JM, Varawalla NY, Weatherall DJ: Rapid detection and prenatal diagnosis of β-thalassaemia: studies in India and Cypriot population in the UK. Lancet 1990;ii:834–837.
Craig JE, Barnetson RA, Prior J, Raven JR, Thein SL: Rapid detection of deletions causing δβ thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification. Blood 1994;83:1673–1682.
Chebab FF, Doherty M, Cai S, Kan YW, Cooper S, Rubin EM: Detection of sickle cell anaemia and thalassaemias. Nature 1987;329:293–294.
Proudfoot NJ, Gil A, Maniatis T: The structure of the ς-globin gene and a closely linked nearly identical pseudogene. Cell 1982;31:553–564.
Wood WG: Increased Hb F in adult life. Baillière’s Clin Haematol 1993;6:177–213.
Thein SL: β-thalassaemia. Baillière’s Clin Haematol 1993;6:151–175.
Jones RW, Old JM, Trent RT, Clegg JB, Weatherall DJ: Restriction mapping of a new deletion responsible for Gγ(δβ)o-thalassaemia. Nucleic Acids Res 1981;9:6813–6825.
Altay C, Oner C, Oner R, Gumruk F, Mergen H, Gurgey A: Effect of α-gene numbers on the expression of β-thalassemia intermedia, β-thalassemia and (δβ)o-traits. Hum Hered 1993;48:121–125.
Qatanani M, Taher A, Koussa S: Beta-thalassaemia intermedia in Lebanon. Eur J Haematol 2000;64:237–244.
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