Summary
Hemoglobin (Hb) M-Saskatoon, a β variant of methemoglobin, is characterized by mild hemolysis. It is caused by the substitution of a histidine by a tyrosine at the 63rd amino acid residue of the β-globin chain. Amplification and sequence analysis of genomic β-globin DNA from an Indonesian boy diagnosed as having the more severe disease thalasemia demonstrated the presence of a C to T transition at nucleotide 473 in one of the two β-blogin genes resulting in a histidine to tyrosine substitution at 63rd residue. This amino acid change matched with that reported in Hb M-Saskatoon. This nucleotide change abolished a recognition site for the restriction endonucleaseNlaIII.NalIII digestion of the corresponding β-globin DNA amplified from the patient's parents indicated that the mutation was inherited through from his mother. This result shows that the world-wide distribution of Hb M-Saskatoon extends to Indonesia, where it was not previously identified. Possible causes of the unusually severe symptoms observed in the case are discussed.
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Arbane-Dahmane M, Rouabhi F, Hocine M, Benabadji M, Redad M, Blouquit Y, Arous N, Delanoe-Garin J, Riou J, Lacombe C, Rosa J, Galactros F (1985): Hemoglobin in Saskatoon (α2/β2 63(E7) His-Tyr) in an Algerian family. Hemoglobin9: 509–511
Baine RM, Wright JM, Johnson MH, Cadena CL (1980): Biosynthetic evidence for instability of Hb M Saskatoon. Hemoglobin4: 201–207
Bunn HF, Forget BG (1986): Hemoglobin: molecular, genetic and clinical aspects. W.B. Saunders Company, Philadelphia
Fucharoen S, Fucharoen G, Srioongrueng W, Loasombat V, Jetsrisuparb A, Prasatkaew S, Tanphaichitr V, Suvatte V, Tuchinda S, Fukumaki Y (1989): Molecular basis of β-thalassemia in Thailand: analysis of β-thalassemia mutations using the polymerase chain reaction. Hum Genet84: 41–46
Labuda D, Striker G (1989): Sequence conservation in Alu evolution. Nucleic Acids Res17: 2477–2491
Lawn R, Efstratiadis A, O'Connell C, Maniatis T (1980): The nucleotide sequence of the human β-globin gene. Cell21: 647–651
Lie-Injo L, Cai S-P, Wahidijat I, Moeslichan S, Lim M, Evangelista L, Doherty M, Kan Y (1989): β-Thalassemia mutations in Indonesia and their linkage to β-haplotypes. Am J Hum Genet45: 971–975
Shibata S, Miyaji T, Iuchi I, Ohba Y, Yamamoto K (1967): Hemoglobin M's of Japanese. Bull Yamaguchi Med Sch14: 141–147
Varawalla N, Old J, Sarkar R, Weatherall D (1991): The spectrum of β-thalassemia mutations of the Indian subcontinent: the basis for prenatal diagnosis. Br J Haematol78: 242–247
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Suryantoro, P., Takeshima, Y., Haryanto, A. et al. C to T transition at the first nucleotide of codon 63 of the β-globin gene corresponding to hemoglobin M-Saskatoon in an Indonesian boy. Jap J Human Genet 40, 195–201 (1995). https://doi.org/10.1007/BF01883577
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DOI: https://doi.org/10.1007/BF01883577