Prenatal diagnosis of beta-thalassaemia and sickle cell anaemia in Turkey

Prenatal Diagnosis
S TüzmenA N Başak

Abstract

This paper reports our experience of molecular analysis and diagnosis of beta-thalassaemia and sickle cell anaemia (HbS) in 70 prospective parents of Turkish descent and their fetuses. Molecular screening was carried out by allele-specific oligonucleotide (ASO) hybridization of amplified DNA to the 12 most common mutations in the Turkish population. By using this approach, we were able to define the mutation in 95 per cent of chromosomes investigated. Genomic sequencing led to the additional detection of three rare mutations: Cd 44 (-C), IVS-I-5 (G-C), and IVS-I-116 (T-G). All diagnoses were successfully accomplished and no misdiagnosis occurred. Consanguineous marriage appears to contribute significantly to the frequency of affected births in Turkey. Out of the 14 homozygous fetuses, six were the result of close consanguinity. This study indicates that fetal diagnosis of beta-thalassaemia and HbS may be obtained in practically all cases, even in a heterogeneous population like the Turkish population, when early methods of fetal sampling are combined with polymerase chain reaction (PCR)-based techniques. Until gene therapy becomes a reality, the only approaches to the control of haemoglobinopathies are prevention and avoidance....Continue Reading

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Citations

Nov 19, 2010·World Journal of Gastroenterology : WJG·Ali EzerGokhan Moray
Dec 1, 1996·Prenatal Diagnosis·J M Old
Apr 1, 1997·American Journal of Hematology·S TüzmenE Baysal
Sep 18, 2001·American Journal of Hematology·M F SadiqJ Horst
Aug 27, 2005·Prenatal Diagnosis·P C GiordanoCornelis L Harteveld
Apr 1, 2015·Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion·Praneeta J SinghA V Shrikhande
Dec 10, 2008·Hemoglobin·Mehmet Akif CürükKiymet Aksoy
Sep 25, 2010·Pediatric Hematology and Oncology·M Sinan BeksacC Altay

Related Concepts

Anemia, Sickle Cell
DNA Mutational Analysis
Embryopathies
Genetic Screening Method
Step-parent
Antenatal Screening Procedures
Chorionic Villi Sampling
Thalassemia Minor

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