Relationship of Frequency of IVS 1-5 (G-C), Fr 8-9 (+G), Fr 41-42 and cd-5 Mutations of β-Thalassemia Traits with Red Cell Indices
Relationship of Frequency of IVS 1-5 (G-C), Fr 8-9 (+G), Fr 41-42 and cd-5 Mutations of β-Thalassemia Traits with Red Cell Indices
Muhammad Waqas1, Naveed Ahmed2*, Hamid Saeed Malik1, Unaiza Qamar3, Hasnain Javed4 and Ahsan Hussain1
ABSTRACT
A descriptive study was carried out to assess the mean ranges of red blood cell (RBCs) indices in β-thalassemia carrier patients with frequency of different common and uncommon/uncharacterized mutations that are IVS 1-5 (G-C), Fr8-9 (+G), Fr 41-42 and Cd 5 mutations of β-thalassemia traits. A total 293 β-thalassemia carrier patients were included in study. Fr 8-9 (+G) was found the most common mutation of β-thalassemia carrier patients in the population which was 112 (38.2%), followed by IVS1-5 (G-C) which was 82 (28%), Fr41-42 which was 24 (8.2%), Cd 5 which was 20 (6.8%) and others which were 55 (18.8%) patients. The IVS 1-5 (G-C) was the most common mutation in Punjabis while Fr 8-9 (+G) was the most common mutation in Pathan community. Lowest hemoglobin (Hb) level was found in IVS 1-5 mutations of β-thalassemia carrier patients, while the average Hb in β-thalassemia carrier patients was 11.54 but it also varied gender-wise, different ethnic origin and in different mutation. The mean MCV was 62.94fl, MCH 19.46pg, MCHC 30.74g/dl and RDW 39.06fl. The final findings showed that IVS 1-5 (G-C) was the most common mutation in Punjabis and Fr 8-9 (+G) is the most common mutation of Pathan community. Lowest Hb was found in IVS 1-5 Mutation of β-thalassemia carrier patients.
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