Premarital screening of hemoglobinopathies: a pilot study in Turkey

Human Heredity
C AltayA Gürgey

Abstract

To identify premarital couples who are carriers for hemoglobinopathies, a screening study was conducted in one of the southern cities of Turkey. For 2,113 couples, total blood count, Hb A2 and Hb F levels were determined and hemoglobin electrophoresis was performed. The frequency of Hb S was 4.6% and beta thalassemia 2.3%. In 35 of 2,113 prospective families, both partners were found to be carriers. During the 4-year follow-up period, prenatal diagnosis was sought in 10 pregnancies of these at-risk families. This study indicated that premarital screening is a very useful tool for detecting carrier couples. The immediate beneficial effect of this study was the application of prenatal hemoglobinopathy diagnosis from the first pregnancy.

Citations

Nov 19, 2010·World Journal of Gastroenterology : WJG·Ali EzerGokhan Moray
Jul 29, 2005·Clinical and Laboratory Haematology·N NalGuven Luleci
May 18, 2011·Medical Principles and Practice : International Journal of the Kuwait University, Health Science Centre·Seyed E HasnainNasreen Z Ehtesham
Jan 2, 2003·Nature Reviews. Genetics·Ala' Alwan, Bernadette Modell
Nov 7, 2007·Journal of Pediatric Hematology/oncology·Ekrem GulerMehmet Karacan
Jan 17, 2012·Journal of Pediatric Hematology/oncology·Cigdem KarakukcuTurkan Patiroglu
May 5, 1999·Journal of Medical Ethics·W Henn
Sep 25, 2010·Pediatric Hematology and Oncology·M Sinan BeksacC Altay

Related Concepts

Complete Blood Count
Genetic Screening Method
Hemoglobinopathies
Eryhem
Heterozygote Detection
Pilot Projects
Premarital Examinations
Antenatal Screening Procedures

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Alzheimer's Disease: MS4A

Variants within the membrane-spanning 4-domains subfamily A (MS4A) gene cluster have recently been implicated in Alzheimer's disease in genome-wide association studies. Here is the latest research on Alzheimer's disease and MS4A.

Pediculosis pubis

Pediculosis pubis is a disease caused by a parasitic insect known as Pthirus pubis, which infests human pubic hair, as well as other areas with hair including eye lashes. Here is the latest research.

Rh Isoimmunization

Rh isoimmunization is a potentially preventable condition that occasionally is associated with significant perinatal morbidity or mortality. Discover the latest research on Rh Isoimmunization here.

Genetic Screens in iPSC-derived Brain Cells

Genetic screening is a critical tool that can be employed to define and understand gene function and interaction. This feed focuses on genetic screens conducted using induced pluripotent stem cell (iPSC)-derived brain cells. It also follows CRISPR-Cas9 approaches to generating genetic mutants as a means of understanding the effect of genetics on phenotype.

Enzyme Evolution

This feed focuses on molecular models of enzyme evolution and new approaches (such as adaptive laboratory evolution) to metabolic engineering of microorganisms. Here is the latest research.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Pharmacology of Proteinopathies

This feed focuses on the pharmacology of proteinopathies - diseases in which proteins abnormally aggregate (i.e. Alzheimer’s, Parkinson’s, etc.). Discover the latest research in this field with this feed.

Alignment-free Sequence Analysis Tools

Alignment-free sequence analyses have been applied to problems ranging from whole-genome phylogeny to the classification of protein families, identification of horizontally transferred genes, and detection of recombined sequences. Here is the latest research.