Biomaterial Database

MRNA analysis in reticulocytes of subjects with Hb D, Hb Porto Alegre, Hb E, and different types of unstable hemoglobin variants. 1996

N S Smetanina, and T H Huisman

Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta 30912-2100, USA.

Using a reverse transcription-polymerase chain reaction (RT-PCR) technique we determined the alpha 2/alpha 1, alpha/beta, and gamma/beta mRNA ratios in reticulocytes of 11 patients with seven different unstable beta chain variants, of 4 patients with two unstable alpha chain variants, in hemoglobin (Hb) D, Hb Porto Alegre, and Hb E heterozygotes, and in 8 patients with Hb X-beta 0-thalassemia (thal) (three D-beta 0-thal, one Porto Alegre = beta 0-thal, one Lulu Island-beta 0-thal, and three E-beta 0-thal). In addition, we determined the beta X/beta A mRNA ratios (X = unstable) in some Hb D heterozygotes and in 6 subjects with an unstable beta chain variant. Normal alpha/beta and beta X/beta A mRNA ratios were found in all heterozygotes tested, indicating that the respective mutations did not alter the stability of the mRNAs. The alpha/beta mRNA ratio in four Hb E heterozygotes averaged 4.21 (normal, 4.47), and that in 2 patients with Hb E-beta 0-thal and four alpha-globin genes (alpha alpha/alpha alpha) averaged a high 22.4. The gamma mRNA level in the Hb E heterozygotes was < 1% but varied greatly in patients with Hb E-beta 0-thal; the alpha/(gamma + beta) mRNA ratios in the 2 patients were 15.5 and 16.7, respectively. The large differences in alpha/beta and alpha/(gamma + beta) mRNA ratios in reticulocytes of subjects with AE and with E-beta 0-thal may be due to differences in the levels of normally-spliced beta E and abnormally-spliced beta E mRNAs. Only the latter is unstable and is preferentially produced in bone marrow and reticulocytes of Hb E-beta 0-thal patients, where it is rapidly degraded.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008297	Male		Males
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D008969	Molecular Sequence Data	Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.	Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D012156	Reticulocytes	Immature ERYTHROCYTES. In humans, these are ERYTHROID CELLS that have just undergone extrusion of their CELL NUCLEUS. They still contain some organelles that gradually decrease in number as the cells mature. RIBOSOMES are last to disappear. Certain staining techniques cause components of the ribosomes to precipitate into characteristic "reticulum" (not the same as the ENDOPLASMIC RETICULUM), hence the name reticulocytes.	Reticulocyte
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D005260	Female		Females
D005914	Globins	A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure.	Globin
D006446	Hemoglobin E	An abnormal hemoglobin that results from the substitution of lysine for glutamic acid at position 26 of the beta chain. It is most frequently observed in southeast Asian populations.
D006455	Hemoglobins, Abnormal	Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains.	Abnormal Hemoglobins