Abstract
Background: Sickle beta thalassemia (HbS-β-Thal) is a disorder which represents the double heterozygous state for the Sickle cell anaemia and the beta - thalassemia genes. It constitutes one of the major genetic haematological disorders in Odisha. The aim of the study is to determine the haematological profile before and after hydroxyurea treatment and its effects on neurological function.
Methods: Blood samples are collected from 45 diagnosed cases of sickle beta thalassemia after taking informed consent as well as due ethical Committee approval. Screening is done by Sickling test and Haemoglobin variants are analysed by fully automated capillary zone electrophoresis. Hydroxyurea is given in appropriate doses and its effect on haematological parameters and neurological functions are studied.
Results: In our observation the fetal hemoglobin is raised to 30.63% ranges from 27% to 36.7%. Adult haemoglobin (HbA> 3.5%) and Sickle cell haemoglobin (HbS > 67%) was taken as determinant for Sickle cell beta thalassemia. We observed high percentage of HbS ranging from 45.9% to 82.3% and the mean is being 69.45%. There are overall increases in HbF by 6% with reductions in the frequency of blood transfusion and no neurological deficit observed after hydroxyurea treatment.
Conclusion: In sickle beta thalassemia, there are overall increases in HbF with reductions in the frequency of blood transfusion after hydroxyurea treatment. Moreover molecular diagnosis is required for β-Globin Gene mutations.
Abbreviations: HbS-β-Thal -Sickle beta thalassemia, Hb A- Adult haemoglobin, HbS- sickle cell haemoglobin, HbF-foetal haemoglobin.
Keywords: β-Globin Gene, Sickle beta thalassemia, foetal haemoglobin.
References
- Silverstroni E, Bicano,Granziani B, Carboni C. Heterozygous beta-thalassaemia with normal haemoglobin pattern. Haematologic, haemoglobin and biosynthesis study of 4 families. Acta Haematol 1978: 59(6):332-40.
- Saurav Banerjee, Rabindra Kumar Singh, Ramesh Kumar Shrivastava, Sunil Kumar. Study of Haemoglobinopathies In Patients of Anaemia Using High Performance Liquid Chromatography (HPLC) J. Evolution Med. Dent. Sci Vol. 05/ Issue 46/ June 09: 2016: 2929 -2933.
- Sanjeev Shyam Rao, Jagdish Prasad Goyal and Vijay B. Shah. Hematological profile of sickle cell disease from South Gujarat, India. Hematol Rep, 2012 May 10: 4(2):e8
- Balgir R S. Division of Human Genetics, Regional Medical Research Centre (ICMR), Bhubaneswar, Orissa. Aberrant Heterosis In Hemoglobinopathies With Special Reference To Thalassemia And Structurally Abnormal Hemoglobins E and S In Orissa, India,Journal of Clinical and Diagnostic Research: 2007 vol: 3:122-130.
- S. Balgir, Division of Human Genetics, Regional Medical Research Centre (ICMR), Chandrasekharpur, Nandan Kanan Road, Bhubaneswar 751 023, India. The burden of haemoglobinopathies in India and the challenges ahead .Current Science, Vol. 79: December 2000 :1537-1547.
- S. Balgir, R. K. Mishra and B.Murmu. Clinical and Hematological Profile of Hemoglobinopathies in Two Tribal Communities of Sundargarh District in Orissa, India Int J Hum Genet, 3(4): 209-216: (2003)
- Eman Ajjack.Hiba A. Awooda,Sana Eltahir Abdalla. Haemoglobin Patterns in Patients with Sickle Cell Haemoglobin-opathies, International Journal of Hematological Disorders,2014: Vol. 1: pp.8-11
- Vincenzo De Sanctis, and Ashraf T Soliman. Growth and Endocrine disorders in thalassemia: Indian Journal of Endocrinology and Metabolism. Vol 17:2013:08-18
- Fabia Neves, Osvaldo Alves Menezes and Ivan Lucena Anglo. Hematological differences between patients with different subtypes of sickle cell disease on hydroxyurea treatment, Hematol Hemoter. 2012: 34(6):426-429
- Patel, Shailesh M. Electrophoresis Pattern In Clinically and Hematologically Suspe-cted Cases of Haemoglobinopathies. NJIRM 2012: Vol. 3(3). July –Aug: 24-27
- Maria Stella Figueiredo. The compound state of Hb S/beta-thalassemia. Brazilian Journal of Hematology and Hemotherapy 2015: May-Jun: 37(3): 150–152.
- Weatherall D.J Clegg J.B. The thalass-aemia syndromes oxford: Blackwell Science: 2001
- Loukopoulos D, Voskaridou E,Kalotychou V, Sachin M and Loutradi A. Reduction of the clinical severity of sickle cell/beta thalassemia with Hydroxyurea: the Experience of single centre in greece. Blood cells Mol Dis 2000 26 (5):453-556
- Rigano P Rodgers GP, Renda D and Aquino A. Clinical and Haematological responces to Hydroxyurea in Sicilian patients with Haemoglobin Sickle beta thalassemia. Haemoglobin 2001:25(1):09-17
- Saxena S, Saxena N and Jaiswal RM. S-Beta Thalassemia leading to avascular necrosis of left hip joint in a young male - A rare case report. IAIM, 2016: 3(8): 278-282. 22.
- Nikam S.V, Dama S.B and Desmukh P.S. The Height And Weight Correlation In Thalassemic Patients From Solapur District,Maharashtra , Rev Bras Hematol Hemoter. 2015 May-Jun: 37(3): 150–152
- Serjeant GR. Sickle cell- β thalassemia , editor Sickle Cell Disease. 3rd ed. Oxford: Oxford University Press: 2001.
- World Medical Association Medical Ethics Committee, Updating the WMA Declaration of Helsinki. Wld Med J 1999: 45: 11-13.
- Ballas SK, Reyes PE. Peripheral neuropathy in adults with sickle cell disease. Am J Pain Med. 1997: 71:53–8.
Corresponding Author
Sujata Sarangi
Department of Pathology, R G Kar Medical College, Kolkata, 700004, India
Email: This email address is being protected from spambots. You need JavaScript enabled to view it.
DOI: https://dx.doi.org/10.18535/jmscr/v5i7.190
