Preliminary step for prenatal diagnosis of thalassemia

Preliminary step for prenatal diagnosis of thalassemia

β-thalassemia is a common disease caused by the reduction or absence of beta globin chain production that results in impaired production of hemoglobin which is the main protein of red blood cells. Affected patients suffer lifelong dependency to blood transfusion and are prone to transfusion-associated infections, as a consequence of transfusion-related iron overload and exposure to viruses.

The only possible prospective prevention of affected offspring is by genetic counseling, carrier screening programs, and prenatal diagnosis and medical abortion as the last resort. Our study about prenatal diagnosis of thalassemia on 55 high risk couple showed that the average intake was 11.6 ± 2.6. Since abortion is legal in Islamic countries before the 16th week of gestation, physicians should send at-risk couples as early as possible and preferably before marriage or pregnancy. Prevention programs have been established in many countries to ease the human suffering and financial burden.1

However the reports of prevention programs in Mediterranean countries are promising, it seems that more and more efforts are needed to improve public awareness.  In a recent study on 764 thalassemic patients or couples with a thalassemic child 26% of subjects had no knowledge of prenatal diagnosis, and 74% believed that received insufficient information. It is interesting that once received enough information 93% of these subjects had positive attitude for prenatal diagnosis and 86.7% were in favor of early pregnancy termination.2 This implies the emerged importance of public awareness for preventive interventions. In addition, it should be always in mind that conservative interpretations of religious and cultural beliefs may affect the decision of at-risk couples. In an Egyptian study, despite being informed of possible prenatal diagnosis 14 couples out of 22 with an affected fetus decided to continue the pregnancy.3


Dr. Ali Kord Valeshabad,
Department of Ophthalmology at University of Illinois at Chicago (UIC)
Date: 08/25/2013




  1. Rahiminejad MS, Zeinali S, Afrasiabi A, Kord Valeshabad A. β-Thalassemia mutations found during 1 year of prenatal diagnoses in Fars Province, Iran. Hemoglobin. 2011;35(4):331-7
  2. Karimi M, Johari S, Cohan N. Attitude toward prenatal diagnosis for β-thalassemia major and medical abortion in Southern Iran. Hemoglobin. 2010;34(1):49–54.
  3. Elgawhary S, Elbaradie Sahar MY, Rashad WM, et al. Prenatal diagnosis of β-thalassemia in Egypt: implementing accurate high-tech methods did not reflect much on the outcome. Pediatr Hematol Oncol. 2008;25(6):541–548.

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