Related Experiment Video
Updated: Jul 23, 2026
Detection of Residual Donor Erythroid Progenitor Cells after Hematopoietic Stem Cell Transplantation for Patients with Hemoglobinopathies
Published on: September 6, 2017
Compound heterozygosity for alpha0-thalassemia (- -THAI) and Hb constant spring causes severe Hb H disease
Vip Viprakasit1, Voravarn S Tanphaichitr
1MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK. viprakas@molbiol.ox.ac.uk
We report two unrelated cases of Hb H-Constant Spring (Hb H-CS) disease caused by a compound heterozygosity for alpha0-thalassemia (--THAI deletion) and Hb CS (alpha142, TAA-->CAA) in Thai patients. Hematological and clinical observations in the probands are more severe than those of deletional type of Hb H disease (- -/-alpha), owing to an early onset of anemia and recurrent episode of anemic crises. These cases also address the importance of the - - THAI deletion which causes a severe clinical phenotype, and that could be missed by routine screening. We suggest that testing for this mutation should be included in the screening program for the prevention and control of thalassemia in Thailand, and possibly in other countries in Southeast Asia, where alpha0-thalassemias are highly prevalent.
We report two unrelated cases of Hb H-Constant Spring (Hb H-CS) disease caused by a compound heterozygosity for alpha0-thalassemia (--THAI deletion) and Hb CS (alpha142, TAA-->CAA) in Thai patients. Hematological and clinical observations in the probands are more severe than those of deletional type of Hb H disease (- -/-alpha), owing to an early onset of anemia and recurrent episode of anemic crises. These cases also address the importance of the - - THAI deletion which causes a severe clinical phenotype, and that could be missed by routine screening. We suggest that testing for this mutation should be included in the screening program for the prevention and control of thalassemia in Thailand, and possibly in other countries in Southeast Asia, where alpha0-thalassemias are highly prevalent.
Related Concept Videos
01:11Genetic Lingo
01:49Multiple Allele Traits
01:31Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
02:18Alternative RNA Splicing
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
01:43Incomplete Dominance
01:31Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life