FREQUENCY OF β-THALASSEMIA TRAIT IN FAMILIES OF THALASSEMIA MAJOR PATIENTS, LAHORE

Authors

  • Tazeen Majeed
  • Mohammed Adil Akhter
  • Ujala Nayyar
  • Muhammad Safwan Riaz
  • Jovaria Mannan

Abstract

Background: Thalassemia major is one of the most common genetic disorders in Pakistan and over five thousand new patients are added in the pool annually. This familial disease has both medical and social implications, and therefore there is a need to assess the magnitude of β-Thalassemia trait amongst family members of Thalassemia major patients. Methods: This cross-sectional descriptive study enrolled 674 blood samples from first degree relatives of registered patients of Thalassemia major at Sir Ganga Ram Hospital, Lahore. Peripheral blood smears were studied for abnormal morphology findings of microcytosis, hypochromia, poikilocytosis (tear drops, target cells) and Erythrocyte indices (haemoglobin, RBCs, mean corpuscular haemoglobin, mean corpuscular volume, mean corpuscular haemoglobin concentration) and Hb electrophoretic (HbA, HbA2, & HbF). Results: Hb electrophoresis showed 61% of the study subjects had haemoglobinopathies. Frequency of β-Thalassemia trait was highest followed by β-Thalassemia major, HbE trait, HbD Punjab and Hb intermedia. Conclusion: Findings strongly suggest screening for β-Thalassemia trait in families of Thalassemia major patients.Keywords:  Thalassemia Trait, Hb electrophoresis, Haemoglobinopathies

References

Alwar V, Kavadia R, Singh N, Rameshkumar K. Hunt for hidden trait. J Lab Physicians 2009;1(1):15–8.

Cousens NE, Gaff CL, Metcalfe SA, Delatycki MB. Carrier screening for Beta-thalassaemia: a review of international practice. Eur J Hum Genet 2010;18:1077–83.

Abolghasemi H, Amid A, Zeinali S, Radfar MH, Eshghi P, Rahiminejad MS, et al. Thalassemia in Iran: epidemiology, prevention, and management. J Pediatr Hematol Oncol 2007;29:233–8.

Modell B, Khan M, Darlison M, King A, Layton M, Old J, et al. A national register for surveillance of inherited disorders: beta thalassaemia in the United Kingdom. Bull World Health Organ 2001;79:1006–13.

Ansari SH, Shamsi TS, Ashraf M, Bohray M, Farzana T, Khan MT, et al. Molecular epidemiology of β-thalassaemia in Pakistan: Far reaching implication. Int J Mol Epidemiol Genet 2011;2:403–8.

Black ML, Sinha S, Agarwal S, Colah R, Das R, Bellgard M, et al. A descriptive profile of β-thalassaemia mutations in India, Pakistan and Sri Lanka. J Community Genet 2010;1(3):149–57.

Modell B, Darlinson M. Global epidemiology of haemoglobin disorders and derived service indicators. Bull World Health Organ 2008;86:480–7.

Qurat-ul-Ain, Ahmad L, Hassan M, Rana SM, Jabeen F. Prevalence of β-thalassemic Patients Associated With Consanguinity and Anti-HCV - Antibody Positivity – A Cross Sectional Study. Pak J Zool 2011;43(1):29–36.

Ahmed S, Saleem M, Modell B, Petrou M. Screening extended families for genetic haemoglobin disorders in Pakistan. N Engl J Med 2002;347:1162–8.

Kumar V, Abbas AK, Aster JC. editors. Robbins Basic Pathology. Philadelphia: Elsevier Saunders; 2007.

Rosu M. One step forward in health promotion. J Med Life 2012;5:367–72.

Khattak I, Khattak ST, Khan J. Heterozygous beta thalassemia in parents of children with beta thalassemia major. Gomal J Med Sci 2006;4(2):52–6.

Ansari SH, Baig N, Shamsi TS, Saif-ur-Rehman, Ansari ZH, Behar Z, et al. Screening immediate family members for carrier identification and counselling: A cost-effective and practical approach. J Pak Med Assoc 2012;62:1314–7.

MesbahUddin M, Akteruzzaman S, Rahman T, Hasan AK, Shekhar HU. Pattern of β-Thalassemia and Other Haemoglobinopathies: A Cross-Sectional Study in Bangladesh. ISRN Hematology 2012;2012:659191.

Firdous N, Gibbons S, Modell B. Falling prevalence of beta-thalassaemia and eradication of malaria in the Maldives. J Community Genet 2011;2:173–89.

Published

2013-07-01