HBB mutations and HbA2 level: Escaping the carrier screening programs
نویسندگان
چکیده
منابع مشابه
Premarital genetic screening for beta thalassemia carrier status of indexed families using HbA2 electrophoresis.
OBJECTIVE To devise a strategy for prevention of beta thalassemia in newborns through reliable screening of indexed families. METHODS The cross-sectional study was conducted over six months in 2011 and comprised blood samples collected from subjects belonging to different ethnic groups from families of beta thalassemia major children registered with the Abbottonian Medical Association Blood C...
متن کاملthe underlying structure of language proficiency and the proficiency level
هدف از انجام این تخقیق بررسی رابطه احتمالی بین سطح مهارت زبان خارجی (foreign language proficiency) و ساختار مهارت زبان خارجی بود. تعداد 314 زبان آموز مونث و مذکر که عمدتا دانشجویان رشته های زبان انگلیسی در سطوح کارشناسی و کارشناسی ارشد بودند در این تحقیق شرکت کردند. از لحاظ سطح مهارت زبان خارجی شرکت کنندگان بسیار با هم متفاوت بودند، (75 نفر سطح پیشرفته، 113 نفر سطح متوسط، 126 سطح مقدماتی). کلا ...
15 صفحه اولLow HbA2 Level in β-Thalassemia Trait
Dr. Köseler and her colleagues reported the presence of δthalassemia in 3 out of 12 patients carrying the β-thalassemia trait with low HbA2 in the recent issue of this journal without giving any explanations for the remaining 9 cases (2012; 29: 289-290) [1]. I wish that they would also look for the presence of αthalassemia, at least in those 9 cases, because this seems to be the more prevalent ...
متن کاملKLF1 gene and borderline hemoglobin A2 in Saudi population
Introduction Elevated HbA2 (hemoglobin A2) level is considered the most reliable hematological parameter for the detection of β-thalassemia carriers. However, some carriers are difficult to recognize because the level of HbA2 is not in the distinctive carrier range, i.e. 4.0-6.0%; instead, some carriers have HbA2 levels between normal and carrier levels, i.e. borderline HbA2 (HbA2 = 3.1-3.9%). ...
متن کاملDNA-based carrier screening in primary healthcare: screening for aspartylglucosaminuria mutations in maternity health offices.
Large-scale genetic screening programs are complex enterprises in which ethical, technical, medical, and socioeconomic aspects have to be handled with professional expertise. Establishment of automated, relatively robust, and inexpensive laboratory techniques is one step of this path. Here a pilot carrier-screening program for the mutations causing aspartylglucosaminuria was carried out for pre...
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ژورنال
عنوان ژورنال: Clinical Case Reports
سال: 2020
ISSN: 2050-0904,2050-0904
DOI: 10.1002/ccr3.3714