Abstract
Hemoglobin D exist in four form; HbD trait, HbD-thalassemia, HbD sickle cell and HbD homozygous. HbD trait and HbD homozygous generally asymptomatic condition but when HbD co-inherit with thalassemia and sickle cell anemia, produces clinically significant conditions like chronic hemolytic anemia. Here we present a case of HbD Punjab with α 3.7 kb deletion and IVS-1-5 β-thalassemia across a family. Diagnosis of HbD patient was performed by high performance liquid chromatography and complete blood count was measured by automated cell analyzer. Molecular study for common alpha deletions done by Gap-PCR while beta thalassemia mutation identified by ARMS-PCR. Case was clinically significant due to the inheritance of HbD/β+thalassemia genotype. Thus observed case behaved like thalassemia intermedia due to co-existence of α 3.7 deletions with IVS 1-5 β-thalassemia mutation in HbD Punjab patient.
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References
Lukens JN. The abnormal hemoglobins: general principles. In: Lee GR, Foerster J, Lukens J, Paraskevas F, Greer JP, Rodgers GM, editors. Wintrobe’s clinical hematology. 10th ed. Baltimore: Lippincott Williams & Wilkins; 1998. p. 1329–45.
Tyagi S, Marwaha N, Parmar V, Basu S. Sickle cell hemoglobin D Punjab disease. Indian J Hematol Blood Transf. 2000;18:31–2.
Firkin F, Chesterman C, Penington D, Rush B. Disorders of hemoglobin structure and synthesis. de Gruchi’s Clinical Haematology in Medical Practice. 5th ed. Oxford: Blackwell Science; 1996. p. 137–71.
Ozsoylu S. Homozygous hemoglobin D Punjab. Acta Haematol. 1970;43:353–9.
Dash S, Kumar S, Dash RJ. Hematological malignancy in hemoglobin D disease. Am J Hematol. 1988;27:305.
Baysal E, Huisman THJ. Detection of common deletional alpha thalassemia -2 determinants by GAP-PCR. Am J Hematol. 1994;46:208–13.
Shah RV, Eunice SE, Baidya S, et al. Determination of the breakpoint and molecular diagnosis of a common alpha Thalassemia -1 deletion in the Indian population. Br J Hematol. 2003;123:942–7.
Chang JG, Lee LS, Lin CP, et al. Rapid diagnosis of alpha-thalassemia-1 of Southeast Asia type and hydrops fetailis by polymerase chain reaction. Blood. 1991;78:853–4.
Varawalla NY, Old JM, Sarkar R, et al. The spectrum of beta thalassemia mutations on the Indian subcontinent: the basis for prenatal diagnosis. Br J of Hematol. 1991;78:242–7.
Perea FJ, Casas-Castaneda M, Villalobos-Arambula AR. HbD-Los Angeles associated with HbS or β-thalassemia in four Mexican Mestizo families. Hemoglobin. 1999;23:231–7.
El-Kalla S, Mathews AR. HbD Punjab in the United Arab Emirates. Hemoglobin. 1997;21:369–75.
Winter WP. Hemoglobin variants in human populations. Vol 1 and 2. Boca Raton: CRC Press; 1986.
Ahmed M, Stuhrmann M, Bashawri L, Kuhnau W, El-Harith EH. The beta-globin genotype E121Q/W15X (cd121GAA–>CAA/cd15TGG–>TGA) underlines HbD/beta-(0) thalassaemia marked by domination of haemoglobin D. Ann Hematol. 2001;80(11):629–33.
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Pandey, S., Ranjan, R., Mishra, R.M. et al. Interaction of - α 3.7, ß Thalassemia Mutation IVS 1-5 and HbD Punjab in a Family: A Case Report. Ind J Clin Biochem 27, 314–317 (2012). https://doi.org/10.1007/s12291-012-0189-8
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DOI: https://doi.org/10.1007/s12291-012-0189-8