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Prevention of homozygous beta thalassemia by premarital screening and prenatal diagnosis in India.
Prenat Diagn. 2009 Jan; 29(1):83-8.PD

Abstract

AIM

To determine the feasibility and acceptability of premarital screening for beta thalassemia/related hemoglobinopathies followed by prenatal diagnosis in India.

MATERIALS AND METHODS

Premarital testing for thalassemia carrier state was carried out in (1) extended family members (EFM) of diagnosed cases of thalassemia/hemoglobinopathies, (2) unmarried adult cases of anemia attending the hospitals' outpatient department (OPD) and (3) adult college students (CG). Hemoglobin, red cell indices were measured by a cell counter and hemoglobin fractionation was carried out by high performance liquid chromatography (HPLC). In cases with HbA2>3.5%, or with variant hemoglobin, mutation screen was done by amplification refractory mutation system polymerase chain reaction (ARMS-PCR). In high-risk prospective couples, premarital genetic counseling was done and prenatal diagnosis possibilities were explained.

RESULTS

The yield of carriers from EFM, OPD and CG groups was 78.17% (308/394), 19.51% (263/1348) and 4.04% (38/939), respectively. The number of prospective high-risk couples detected were 154, 48 and 2 from EFM, OPD and CG, respectively. As much as 99% of prospective carrier couples married even after knowing their high-risk status and opted for prenatal diagnosis. The program averted the birth of 33 thalassemic children; 28 in EFM group (by screening of 394 individuals), 4 in the OPD group (by screening 1348 anemic patients), and 1 in CG group (by screening of 939 students).

CONCLUSION

Premarital screening in extended family members, followed by prenatal diagnosis is acceptable and the most effective strategy for control of thalassemia in developing countries like India.

Authors+Show Affiliations

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, 226014, India.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19090545

Citation

Tamhankar, Parag M., et al. "Prevention of Homozygous Beta Thalassemia By Premarital Screening and Prenatal Diagnosis in India." Prenatal Diagnosis, vol. 29, no. 1, 2009, pp. 83-8.
Tamhankar PM, Agarwal S, Arya V, et al. Prevention of homozygous beta thalassemia by premarital screening and prenatal diagnosis in India. Prenat Diagn. 2009;29(1):83-8.
Tamhankar, P. M., Agarwal, S., Arya, V., Kumar, R., Gupta, U. R., & Agarwal, S. S. (2009). Prevention of homozygous beta thalassemia by premarital screening and prenatal diagnosis in India. Prenatal Diagnosis, 29(1), 83-8. https://doi.org/10.1002/pd.2176
Tamhankar PM, et al. Prevention of Homozygous Beta Thalassemia By Premarital Screening and Prenatal Diagnosis in India. Prenat Diagn. 2009;29(1):83-8. PubMed PMID: 19090545.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prevention of homozygous beta thalassemia by premarital screening and prenatal diagnosis in India. AU - Tamhankar,Parag M, AU - Agarwal,Sarita, AU - Arya,Vandana, AU - Kumar,Ravindra, AU - Gupta,U R, AU - Agarwal,S S, PY - 2008/12/19/entrez PY - 2008/12/19/pubmed PY - 2009/5/16/medline SP - 83 EP - 8 JF - Prenatal diagnosis JO - Prenat. Diagn. VL - 29 IS - 1 N2 - AIM: To determine the feasibility and acceptability of premarital screening for beta thalassemia/related hemoglobinopathies followed by prenatal diagnosis in India. MATERIALS AND METHODS: Premarital testing for thalassemia carrier state was carried out in (1) extended family members (EFM) of diagnosed cases of thalassemia/hemoglobinopathies, (2) unmarried adult cases of anemia attending the hospitals' outpatient department (OPD) and (3) adult college students (CG). Hemoglobin, red cell indices were measured by a cell counter and hemoglobin fractionation was carried out by high performance liquid chromatography (HPLC). In cases with HbA2>3.5%, or with variant hemoglobin, mutation screen was done by amplification refractory mutation system polymerase chain reaction (ARMS-PCR). In high-risk prospective couples, premarital genetic counseling was done and prenatal diagnosis possibilities were explained. RESULTS: The yield of carriers from EFM, OPD and CG groups was 78.17% (308/394), 19.51% (263/1348) and 4.04% (38/939), respectively. The number of prospective high-risk couples detected were 154, 48 and 2 from EFM, OPD and CG, respectively. As much as 99% of prospective carrier couples married even after knowing their high-risk status and opted for prenatal diagnosis. The program averted the birth of 33 thalassemic children; 28 in EFM group (by screening of 394 individuals), 4 in the OPD group (by screening 1348 anemic patients), and 1 in CG group (by screening of 939 students). CONCLUSION: Premarital screening in extended family members, followed by prenatal diagnosis is acceptable and the most effective strategy for control of thalassemia in developing countries like India. SN - 0197-3851 UR - https://www.unboundmedicine.com/medline/citation/19090545/Prevention_of_homozygous_beta_thalassemia_by_premarital_screening_and_prenatal_diagnosis_in_India_ L2 - https://doi.org/10.1002/pd.2176 DB - PRIME DP - Unbound Medicine ER -