Summary
In the Far East two types of α-thalassemia genes, namely α-thalassemia1 (α-thal1) and α-thalassemia2 (α-thal2) exist. Definite diagnosis of the α-thal1 and α-thal2 traits is very difficult because their hematological findings are minimally abnormal or normal. This study attempts to characterize the heterozygotes by hemoglobin chain synthesis in reticulocytes from obligatory cases of the α-thal1 and α-thal2 traits. Twelve parents of babies with hemoglobin Bart's hydrops fetalis (obligatory α-thal1 trait) had the mean total radioactivity α/β ratio of 0.76±SD 0.04, while that of 7 normal controls was 1.06±SD 0.04. The α/β globin chain ratios of 16 cases, who were either parents or offspring of patients with hemoglobin H disease, were found to segregate into 2 groups, i.e. 0.78±SD 0.03 (10 cases) and 0.92±SD 0.03 (6 cases), probably representing the α-thal1 and α-thal2 traits respectively. The hematological data of the first group showed definite hypochromic microcytic red cells, similar to thoseof the parents of the hydrops. The second group had significantly higher mean corpuscular hemoglobin than the first group, compatible with α-thal2 trait. Our globin chain synthesis study thus appears to be capable of discriminating normal, α-thal1 and α-thal2 traits.
Similar content being viewed by others
References
Clegg, J. B., Naughton, M. A., Weatherall, D. J.: Abnormal human haemoglobins. Separation and characterization of α- and β-chains by chromatography and determination of two new variants, Hb Chespeake and Hb J (Bangkok). J. molec. Biol. 19, 91–108 (1966)
Danon, D.: A rapid micromethod for recording red cell osmotic fragility by continuous decrease of salt concentration. J. clin. Path. 16, 377–382 (1963)
Gammack, D. B., Huehns, E. R., Shooter, E. M., Gerald, P. S.: Identification of the abnormal polypeptide chain of hemoglobin G-Ib. J. molec. Biol. 2, 372–378 (1960)
Lingrel, J. B., Borsook, H.: A comparison of amino acid incorporation into the hemoglobin and ribosomes of marrow erythroid and circulating reticulocytes of severely anemic rabbits. Biochem. 2, 309–314 (1963)
Milner, P. F., Clegg, J. B., Weatherall, D. J.: Haemoglobin H disease due to a unique haemoglobin variant with an elongated α-chain. Lancet 1971 I, 729–732
Na-Nakorn, S., Wasi, P.: Alpha-thalassemia in northern Thailand. Amer. J. hum. Genet. 22, 645–651 (1970)
Pongsamart, S.: Globin chain synthesis in haemoglobin Thai (Constant Spring), Thesis, Chulalongkorn Univ., Sept. 1974
Pongsamart, S., Pootrakul, S., Wasi, P., Na-Nakorn, S.: Hemoglobin Constant Spring: hemoglobin synthesis in heterozygous and homozygous states. Biochem. biophys. Res. Commun. 64, 681–686 (1975)
Pootrakul, S., Wasi, P., Na-Nakorn, S.: Studies on haemoglobin Bart's (Hb γ4) in Thailand: the incidence and the mechanism of occurrence in cord blood. Ann. hum. Genet. 31, 149–166 (1967)
Pootrakul, S., Wasi, P., Na-Nakorn, S.: Haemoglobin Bart's hydrops foetalis in Thailand. Ann. hum. Genet. 30, 293–311 (1970)
Schwartz, E., Atwater, J.: α-thalassaemia in American Negro. J. clin. Invest. 51, 412–418 (1972)
Schwartz, E., Kan, Y. W., Nathan, D. G.: Unbalanced globin chain synthesis in alpha-thalassemia heterozygotes. Ann. N.Y. Acad. Sci. 165, 288–294 (1969)
Singer, K., Chernoff, A. I., Singer, L.: Studies on abnormal hemoglobins. I. Their demonstration in sickle cell anemia and other hematologic disorders by means of alkali denaturation. Blood 6, 413–428 (1951)
Wasi, P.: The alpha thalassemia genes. J. med. Ass. Thailand 53, 677–686 (1970)
Wasi, P., Disthasongchan, P., Na-Nakorn, S.: The effect of iron deficiency on the levels of hemoglobins A2 and E. J. Lab. clin. Med. 71, 85–91 (1968)
Wasi, P., Na-Nakorn, S., Pootrakul, P., Panich, V.: Incidence of haemoglobin Thai: a reexamination of the genetics of α-thalassaemic diseases. Ann. hum. Genet. 35, 467–470 (1972)
Wasi, P., Na-Nakorn, S., Pootrakul, S., Sookanek, M., disthasongchan, P., Pornpatkul, M., Panich, V.: Alpha- and beta-thalassemia in Thailand. Ann. N.Y. Acad. Sci. 165, 60–82 (1969)
Wasi, P., Na-Nakorn, S., Suingdumrong, A.: Haemoglobin H disease in Thailand: a genetical study. Nature (Lond.) 204, 907–908 (1964)
Weatherall, D. J., Clegg, J. B., Na-Nakorn, S., Wasi, P.: The pattern of disordered haemoglobin synthesis in homozygous and heterozygous β-thalassaemia. Brit. J. Haemat. 16, 251–267 (1969)
Weatherall, D. J., Clegg, J. B., Wong, H. B.: The haemoglobin constitution of infants with the haemoglobin Bart's hydrops foetalis syndrome. Brit. J. Haemat. 18, 357–367 (1970)
Zaizov, R., Kirschmann, C., Wollach, B., Matoth, Y.: Globin chain synthesis in bonemarrow and peripheral blood in α-thalassemia. Presentation in XV Congress of the International Society of Hematology, Jerusalem, Sept. 1974
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Pootrakul, Sn., Sapprapa, S., Wasi, P. et al. Haemoglobin synthesis in 28 obligatory cases for α-thalassemia traits. Hum Genet 29, 121–126 (1975). https://doi.org/10.1007/BF00430348
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00430348