Open AccessFrequencies of Beta Thalassemia Mutations Show Different Pattern in Bannu Region than Other Parts of Pashtun Population in Khyber Pakhtunkhwa Province Pakistan
Author(s) -
Shoaib Ur Rehman,
Muhammad Shakeel,
Maimoona Azam,
Sadaf Akhtar,
. Ziaullah,
Rauf Niazi
Publication year - 2021
Publication title -
indian journal of hematology and blood transfusion/indian journal of hematology and blood transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.213
H-Index - 15
eISSN - 0974-0449
pISSN - 0971-4502
DOI - 10.1007/s12288-020-01361-1
Subject(s) - khyber pakhtunkhwa , beta thalassemia , thalassemia , population , medicine , beta (programming language) , demography , socioeconomics , environmental health , economics , computer science , programming language , sociology
β-Thalassemia arises as result of mutations in HBB gene, influencing the globin production which results in hypochromic and microcytic anaemia. The present study was aimed to investigate the occurrence of six common β-thal mutations, its inheritance pattern, frequency, and consanguinity in parents of Bannu region Khyber Pakhtunkhwa (KP) province, Pakistan. Conducting such studies may impart important information about thalassemia prevention like prenatal diagnosis (PND), carrier screening and genetic counselling which may be helpful in controlling the suspected births.