PRENATAL DIAGNOSIS OF Β-Thalassaemia AND SICKLE CELL ANAEMIA IN TURKEY

Tüzmen, Şükrü; Tadmouri, Ghazi O.; Özer, Ayşe; Baig, Shahid Mahmood; Özçelik, Hilmi; Başaran, Seher; Başak, A. Nazlı

doi:10.1002/(sici)1097-0223(199603)16:3<252::aid-pd839>3.0.co;2-w

Cited by 23 publications

(18 citation statements)

References 19 publications

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“…Though a complete genotype was not offered but we were able to rule out that fetus would not suffer from SCD. Similar findings were reported by Goosen et al [36] and Tuzmen et al [37]. The faint band seen with mutant sickle cell primer could be due to maternal contamination.…”

Section: Fetus Genotypesupporting

confidence: 89%

Prenatal Diagnosis of Sickle Cell Disease by the Technique of PCR

Singh

Shrivastava

Shrikhande

2014

Indian J Hematol Blood Transfus

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Sickle cell disease (SCD) is prevalent in Central India and causes major morbidity and mortality. There is a lack of prenatal diagnostic facility near population affected with SCD. This is the pilot study in our region with the aim to establish prenatal diagnostic facility for the couples carrying sickle cell gene in Central India, in order to help them take an informed decision regarding fetus affected with SCD and also to calculate sensitivity of polymerase chain reaction (PCR) technique in our set up with follow up high performance liquid chromatography (HPLC) of baby's blood sample. Fetal sampling was done by chorionic villous biopsy. Extracted DNA was subjected to amplification refractory mutation system (ARMS-PCR) to detect sickle cell mutation (GAG ? GTG) in the sixth codon of b globin gene. Follow-up HPLC was done to detect baby's Hb pattern. Prenatal diagnosis of sickle cell anemia was offered in total 37 cases out of which one (2.7 %) fetal sample was inadequate. Total 26 (70.27 %) fetuses had AS Hb genotype, 3 (8.11 %) had AA Hb genotype and 3 (8.11 %) had SS Hb genotype while remaining 4 (10.81 %) were given AA/AS Hb genotype. All couples with SS fetuses opted for MTP. Follow up HPLC was performed in 24 cases, out of which 18 (75 %) were correlated and 6 (25 %) were mismatched. In present study sensitivity of ARMS-PCR was 75 %. ARMS-PCR is a simple technique to be established initially for providing rapid prenatal diagnosis to the couples with known sickle cell mutation. The sensitivity of ARMS-PCR can be increased by using suitable techniques to detect maternal cell DNA contamination.

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Section: Fetus Genotypesupporting

confidence: 89%

Prenatal Diagnosis of Sickle Cell Disease by the Technique of PCR

Singh

Shrivastava

Shrikhande

2014

Indian J Hematol Blood Transfus

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“…Although the common frequent alleles in Jordan are generally similar to those found in other countries in the region, many rare alleles reported in the region were not detected in this study. These included codon 29 (C>T) reported in Lebanon and Yugoslavia [24,25,35], the 290-bp deletion reported in Lebanon, Syria, and Turkey [24][25][26][31][32][33], the 25-bp deletion reported in Lebanon, West Saudi Arabia, Kuwait, and United Arab Emirates (UAE) [16][17][18]24,25,[36][37][38], the Saudi Arabian IVS1-128 (T>G) [39], codon 44 (-C) reported in Kurdish Jews, UAE, and Tunisia [34,37,38,40], and the frame shift at codons 8/9 (+G) reported in Saudi Arabia, Kuwait, and Jordanians living in Saudi Arabia [17,18,36].…”

Section: Discussionmentioning

confidence: 99%

Spectrum of β‐thalassemia in Jordan: Identification of two novel mutations

2001

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Two hundred and forty-four ␤-thalassemia alleles were identified from 135 unrelated occasionally and periodically transfusion dependent ␤-and S/␤-thalassemia patients from all regions of Jordan. Allele identification was achieved by PCR amplification of ␤-globin genes, dot-blotting the amplified DNA, hybridization with allele specific synthetic probes, and direct sequencing of amplified genomic DNA. A total of 19 different mutations were detected, eight of them constituted about 86% of the Jordanian thalassemic chromosomes. These mutations were IVS1-110 (G>A) (25%), IVS2-1 (G>A) (15%), IVS2-745 (C>G) (14.2%), IVS1-1 (G>A) (10%), IVS1-6 (T>C) (8.3%), codon 37 (G>A) (6.3%), codon 39 (C>T) (4.6%), and codon 5 (-C) (3.8%). The remaining eleven mutations were rare, presented with frequencies ranging between 0.4% and 1.6%. These included two novel mutations and four others detected in Jordan for the first time

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“…[5] Preventive programs for β-thalassemia consisting of genetic counseling, carrier detection, and prenatal diagnostic are the effective approaches. [6] The introduction of chorionic villus sampling (CVS) along with polymerase chain reaction-(PCR) based technique has made the prenatal diagnosis rapid and reliable at early stage of pregnancy. [6] These mutations can be detected by amplification refractory mutation system (ARMS).…”

mentioning

confidence: 99%

“…[6] The introduction of chorionic villus sampling (CVS) along with polymerase chain reaction-(PCR) based technique has made the prenatal diagnosis rapid and reliable at early stage of pregnancy. [6] These mutations can be detected by amplification refractory mutation system (ARMS). However, for characterization of rare mutations of β-thalassemia gene sequencing and single strand conformation polymorphism techniques are reliable tools.…”

mentioning

confidence: 99%

Molecular characterization of mutations causing β -thalassemia in Faisalabad Pakistan using the amplification refractory mutation system (ARMS-PCR)

Baig¹,

Rabbi²,

Hameed³

et al. 2005

Indian J Hum Genet

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BACKGROUND:Faisalabad is the third biggest city of Pakistan. Majority of the population is Punjabi while other ethnic groups are in minority. AIMS: The present study was undertaken to find the mutations causing β-thalassemia in Faisalabad Pakistan. MATERIALS AND METHODS:A total of 285 β-globin alleles from 143 unrelated families having at least one transfusion-dependent child were analyzed by using amplification refractory mutation system (ARMS-PCR). RESULTS: FSC-8/9 (+G) and IVS-I-5 (G→C) were the most common mutations. The allele frequency for FSC-8/9 (+G) was 38.59% while frequency for IVS-I-5 (G→C) was 37.89%. The high frequency (76.48%) of IVS-I-5 (G→C) and FSC-8/9 (+G) on various alleles provides a strong evidence of intermarriages. CONCLUSIONS: By using ARMS-PCR, the mutations were successfully characterized in 95.79% of subjects, while 4.21% remain to be characterized. This study will facilitate the implementations of genetic counseling and prenatal diagnosis in the population of Faisalabad.

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PRENATAL DIAGNOSIS OF Β-Thalassaemia AND SICKLE CELL ANAEMIA IN TURKEY

Cited by 23 publications

References 19 publications

Prenatal Diagnosis of Sickle Cell Disease by the Technique of PCR

Prenatal Diagnosis of Sickle Cell Disease by the Technique of PCR

Spectrum of β‐thalassemia in Jordan: Identification of two novel mutations

Molecular characterization of mutations causing β -thalassemia in Faisalabad Pakistan using the amplification refractory mutation system (ARMS-PCR)

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