Property | Value |
Name | HbH disease a rare but perilious variant of alpha thalassemia |
Description | Case report:- Pathology
Amrit Kaur Kaler1*, Raja Parthiban2, Madhusmitha Jena3, Gandhi N3 & Shantha B4 1Assistant Professor, 2Associate Professor, 3Professor, Shantha, IInd year, Post graduate of Pathology, MVJMC & RH, Bangalore, India.
Abstract:- The α-thalassemias are the most common inherited disorders of hemoglobin (Hb) synthesis due to deletions or point mutations affecting 1 or more α-globin genes leading to decreased or absent α-globin chain synthesis. The α thalassemias involve the genes HBA1 and HBA2 located on chromosome 16(16p13.3) and inherited in an autosomal recessive fashion. The normal complement of four functional alpha-globin genes may be decreased by 1, 2, 3 or all 4 copies of the genes, explaining the clinical variation and increasing severity of the disease. Compound heterozygotes and some homozygotes have a moderate to severe form of α thalassaemia called HbH disease. Patients with non-deletional types of HbH disease are more severely affected than those with the common deletional types of HbH disease. It can also be acquired, under rare circumstances. Due to the low occurrence of α -thalassemia, the disease can be mistaken for iron deficiency anemia.
Key words:- Haemoglobin H disease, Alpha Thalassemia, Iron deficiency anemia.
References:- 1.Harteveld CL, Higgs DR. α-thalassaemia. Orphanet J Rare Dis 2010; 5:13. 2.Higgs DR and Bowden DK. Clinical and laboratory features of the a-thalassemia. In: Disorders of Haemoglobin; Genetics, Pathophysiology, and Clinical Management (ed. by MH. Steimberg, BG. Forget, DR. Higgs & RL. Nagel) 2001; pp. 431- 69. Cambridge University Press, Cambridge, UK.. 3.Bernini LF. Geographic distribution of alpha thalassemia. In: Steinberg M, Forget B, Higgs D, et al., eds. Disorders of hemoglobin. New York, NY: Cambridge University Press; 2001:878-94. 4.Desai S, Colah R. Alpha-Thalassemia Syndromes In India. Indian J Hum Genet 1997; 3: 1-9. 5.Mitra S.S. The clinical and haematological profile of thalassaemia and haemoglobinopathies in Indian Pediatr. 1983; 20: 701–13. 6.Cornelis L Harteveld and Douglas R Higgs. αethalassaemia. Harteveld and Higgs Orphanet Journal of Rare Diseases 2010, 5:13. 7.Weatherall DJ, Clegg JB: The Thalassaemia Syndromes. 4th edition. Oxford ,England: Blackwell Science Ltd 2001. 8. Delft van P, Lenters E, Bakker-Verweij M, de KM, Baylan U, Harteveld CL, Evaluating five dedicated automatic devices for haemoglobinopathy diagnostics in multi-ethnic populations. Int J Lab Hematol 2009, 31:484-95. 9.Nooitgdag JE et al. A new deletion defect leading to alpha-thalassemia in large Dutch Caucasian family. Br J Hematol 2007; 106(4): 662-5. 10.Cohen AR, Galanello R, Pennell DJ, Cunningham MJ, Vichinsky E: Thalassemia. Hematology Am Soc Hematol Educ Program 2004:14-34.
Copyright © 2013 Kaler et al.. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
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