Umbilical Cord Blood Screening for the Detection of Common Deletional Mutations of α-Thalassemia in Bangladesh

Hemoglobin
Saeed AnwarMd Faruque Miah

Abstract

α-Thalassemia (α-thal) is assumed to be very prevalent in Bangladesh. We aimed to assess the prevalence of the disease in the country and provide a model for α-thal newborn screening in Bangladesh. We collected umbilical cord blood (UCB) samples from 413 unrelated newborns in Bangladesh. Demographic information, blood indices, osmotic fragility, serum iron (Fe), and zinc (Zn) levels were evaluated for all the subjects. All subjects underwent a polymerase chain reaction (PCR)-based diagnosis for α-thal status, followed by a multiplex gap-PCR-based identification of the deletion type present. Sixty-seven subjects had at least one α-thal deletion (16.22%). We observed that -α3.7 (rightward), - -SEA (Southeast Asian), -α4.2 (leftward), - -MED (Mediterranean) and - -THAI (Thailand) deletions were the most common α-globin deletions present in the country, with the -α3.7 (n = 37) and - -SEA (n = 18) being most prevalent. The osmotic fragility test (OFT) could predict the presence of α-thal deletions with over 98.0% sensitivity. Complete UCB count analysis revealed significant differences between healthy subjects and subjects with α-thal deletions. Although the iron level was almost the same (108.0 vs. 105.7 µg/dL), a reduced level of ...Continue Reading

References

Jan 1, 1981·Hemoglobin·Renzo GalanelloAntonio Cao
Mar 1, 1995·British Journal of Haematology·M GanczakowskiDavid J Weatherall
Mar 1, 1997·Annals of Clinical Biochemistry·A Taylor
Jan 4, 2001·Journal of Clinical Laboratory Analysis·N I NogueraA C Milani
Jul 11, 2002·Annals of Hematology·V M DeydeS Fattoum
Jun 9, 2004·Hemoglobin·Guru Prasad ChhotrayManoranjan Ranjit
Aug 25, 2004·International Journal of Gynaecology and Obstetrics : the Official Organ of the International Federation of Gynaecology and Obstetrics·S SirichotiyakulT Tongsong
Aug 19, 2007·Journal of Inherited Metabolic Disease·Amal Saadallah, M S Rashed
May 2, 2008·Genetic Testing·Anita NadkarniKanjaksha Ghosh
Jun 24, 2008·Bulletin of the World Health Organization·Bernadette Modell, Matthew Darlison
Dec 9, 2008·Pediatric Blood & Cancer·Jennifer MichlitschElliott P Vichinsky
Mar 9, 2010·Seminars in Perinatology·Carmencita David PadillaBradford L Therrell
Apr 8, 2010·Indian Pediatrics·Seema Kapoor, Madhulika Kabra
May 29, 2010·Orphanet Journal of Rare Diseases·Cornelis L Harteveld, Douglas R Higgs
Mar 8, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Renzo Galanello, Antonio Cao
Aug 9, 2011·Blood·Lucia PerseuRenzo Galanello
Apr 25, 2012·Journal of Health, Population, and Nutrition·Tahmeed AhmedAlejandro Cravioto
Jan 4, 2013·Cold Spring Harbor Perspectives in Medicine·Douglas R Higgs
Apr 2, 2013·Cold Spring Harbor Perspectives in Medicine·Elliott P Vichinsky
Aug 13, 2013·Journal of Empirical Research on Human Research Ethics : JERHRE·Elicia D Preslan, Debra J H Mathews
Nov 13, 2014·The New England Journal of Medicine·Frédéric B Piel, David J Weatherall
Dec 31, 2014·Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion·Amita TrehanR K Marwaha
May 17, 2015·Seminars in Perinatology·Bradford L TherrellJohn Adams
Aug 11, 2015·Diagnostic and Interventional Imaging·R Loffroy
Mar 24, 2016·Food and Nutrition Bulletin·Abu Ahmed ShamimNazma Shaheen
Jan 1, 2015·Maternal Health, Neonatology and Perinatology·Patrick D Carroll, Robert D Christensen
Aug 25, 2016·Revista latino-americana de enfermagem·Lauren Auer LopesPaulo Ricardo Bittencourt Guimarães
May 20, 2017·Orphanet Journal of Rare Diseases·Mohammad Sorowar HossainManzur Morshed
Aug 5, 2017·Lancet·Ali T TaherMaria Domenica Cappellini
Oct 17, 2017·Blood Cells, Molecules & Diseases·Samaneh Farashi, Cornelis L Harteveld
Nov 14, 2018·Hemoglobin·Ilham YoussrySamia Rizk
Nov 18, 2018·Blood·Shantelle Mullen, Dipti Talaulikar
Mar 5, 2019·Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion·Dipti UpadhyeRoshan Colah
Jan 4, 2020·Asian Journal of Transfusion Science·Seyed Hadi MousaviBahareh Abbaspanah
Oct 20, 2020·International Journal of Neonatal Screening·Andy De SouzaIveta Sosova

Related Concepts

Analysis of Substances
Biological Markers
Diagnosis
Epidemiology
Gene Deletion
Neonatal Screening
Osmotic Fragility Test
Polymerase Chain Reaction
Umbilical Cord Structure
Zinc

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.

Neural Activity: Imaging

Imaging of neural activity in vivo has developed rapidly recently with the advancement of fluorescence microscopy, including new applications using miniaturized microscopes (miniscopes). This feed follows the progress in this growing field.

The Tendon Seed Network

Tendons are rich in the extracellular matrix and are abundant throughout the body providing essential roles including structure and mobility. The transcriptome of tendons is being compiled to understand the micro-anatomical functioning of tendons. Discover the latest research pertaining to the Tendon Seed Network here.

Myocardial Stunning

Myocardial stunning is a mechanical dysfunction that persists after reperfusion of previously ischemic tissue in the absence of irreversible damage including myocardial necrosis. 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.

Incretins

Incretins are metabolic hormones that stimulate a decrease in glucose levels in the blood and they have been implicated in glycemic regulation in the remission phase of type 1 diabetes. Here is the latest research.

Chromatin Regulation and Circadian Clocks

The circadian clock plays an important role in regulating transcriptional dynamics through changes in chromatin folding and remodelling. Discover the latest research on Chromatin Regulation and Circadian Clocks here.

Long COVID-19

“Long Covid-19” describes illness in patients who are reporting long-lasting effects of the SARS-CoV-19 infection, often long after they have recovered from acute Covid-19. Ongoing health issues often reported include low exercise tolerance and breathing difficulties, chronic tiredness, and mental health problems such as post-traumatic stress disorder and depression. This feed follows the latest research into Long Covid.

Spatio-Temporal Regulation of DNA Repair

DNA repair is a complex process regulated by several different classes of enzymes, including ligases, endonucleases, and polymerases. This feed focuses on the spatial and temporal regulation that accompanies DNA damage signaling and repair enzymes and processes.