COMPARISON OF FREQUENCY OF CONSANGUINOUS RELATIONSHIP AMONG PARENTS OF BETA THALASSEMIA MAJOR AND NORMAL CONTROLS

Abstract

Introduction: β Thalassemia is an autosomal recessive disorder, characterized by deletion of both β−chains leading to abnormal production of Hb and excessive destruction of RBCs. Patients present in infancy with poor growth, hepatosplenomegaly and severe microcytic hypochromic anaemia. Any child with β Thalassemia needs frequent blood transfusions throughout life. As the child grows, metabolic complications emerge resulting in death in second decade of life. Present study was conducted to compare the frequency of consanguinity between thalassaemic patients and normal controls.

Materials and methods: This case control study was completed in department of Haematology, The Children’s Hospital & the Institute of Child Health Multan from 19^th of September 2020 to 19^th of March 2021. 182 cases were enrolled after taking informed consent from parents/guardians. Presence or absence of consanguinity including first or second cousin was taken from parents. Final outcome is the mean difference of consanguinity between thalassemic patients and normal controls.

Results: Mean age of patients was 6.9+_1.0 years. Among thalassemic patients, 79% were outcome of consanguineous marriage and 12% were of non-consanguineous. Among controls, 60% were from consanguineous parent and 31% were from non-consanguineous. 112(61%) children were male and 70(38%) were female. 58% were 1^st cousin and 18% were second cousin. Mean difference in consanguinity between thalassemic and normal controls was 56.4+_ 43.6(p=0.16) which was not statically significant.

Conclusion: Mean difference of consanguinity between patients and normal controls was noted to be 56.4+_43.6% (p=0.16) showing role of consanguinity in thalassemia.