Knowledge of thalassemia and consanguinity: A multicenter hospital based retrospective cohort study from metropolitan city of Karachi, Pakistan.

  • Nadia Khalid Bahria University Medical & Dental College Karachi- Pakistan.
  • Khaula Noreen Gujranwala Medical College, Gujranwala –Pakistan.
  • Farhan Mohammad Qureshi Karachi institute of Medical Sciences, Malir Cantt, Karachi- Pakistan.
  • Marvi Mahesar Bahria University Medical & Dental College Karachi- Pakistan.
Keywords: Autosomal Recessive Disorder, Consanguinity, Thalassemia

Abstract

Objectives: To find the association between consanguinity and frequency of b-thalassemia and to assess the knowledge of parents regarding disease as well as inclination towards premarital carrier screening  (PMCS), pre natal diagnosis, pre conception genetic counseling. Study Design: A retrospective cohort study. Setting: Patients with beta thalassemia attending Fatimid Foundation and PNS Shifa Hospital, Karachi. Period: Six Months July – December, 2017. Materials and Methods: Data was collected by pre tested questionnaire which include basic demographic profile, frequency of consanguineous marriages and knowledge regarding disease from parents of children suffering from thalassemia. The study was approved by ethical review committee. Data was analyzed using SPSS version 21. Chi square test was applied. Results: Data was collected from 200 study participants including parents of thalassemia. Males were 52% and 48% were the females. 78.5% were relatives (p=0.001) out of these related, first degree relatives were 61% and 17.5% were distant relatives (p 0.009). Only 25% were aware of genetic counseling, 65% know that thalassemia had genetic mode of transmission (p=0.005), 24% were aware of screening modalities available for thalassemic patients (p=0.001). About 63.55% agreed that premarital screening can prevent thalassemia (p=0.001), majority (83%) of parents were not aware of pre natal diagnosis of thalassemia (p=0.001) more than half of study participants (52%) were still in favor of cousin marriages in future. Conclusion: Thalassemia was found most prevalent among first degree familial relatives. Parents have inadequate knowledge regarding disease. Lack of knowledge and trends consanguineous marriages are strong contributory factor for causation of disease.

Author Biographies

Nadia Khalid, Bahria University Medical & Dental College Karachi- Pakistan.

MBBS, MCPH-HCSM

Senior Lecturer

Community Health Sciences

 

Khaula Noreen, Gujranwala Medical College, Gujranwala –Pakistan.

MBBS, M.Phil. (Community Medicine)

Assistant Professor

Community Health Sciences

 

Farhan Mohammad Qureshi, Karachi institute of Medical Sciences, Malir Cantt, Karachi- Pakistan.

MBBS, MS Public Health and Health Promotion

Assistant Professor

Community Health Sciences

 

Marvi Mahesar, Bahria University Medical & Dental College Karachi- Pakistan.

4th Year MBBS Student

Published
2019-09-10