Effects of α-thalassaemia mutations on the haematological parameters of β-thalassaemia carriers. 2015

Nasrollah Saleh-Gohari, and Maryam Khademi Bami, and Roya Nikbakht, and Hassan Karimi-Maleh
Physiology Research Center, Kerman University of Medical Sciences, Kerman, Iran.

BACKGROUND Thalassaemia is a haemoglobin disorder caused by a reduction in, or a complete absence of, the production of α- or β-globin genes. Detection of β-thalassaemia carriers is the first step in the prenatal diagnosis of the disease and is based primarily on the differences between levels of blood cell indices. Since co-inheritance of β- and α-thalassaemia mutations modulates the haematological parameters of heterozygote β-thalassaemia indices, understanding the influence of this interaction is helpful for identification of disease carriers. OBJECTIVE To determine the effects of α-thalassaemia mutations on the haematological parameters of β-thalassaemia carriers. METHODS We used gap-PCR and amplification refractory mutation system techniques to find any α- and/or β-thalassaemia mutations in 270 subjects who were suspected to be thalassaemia carriers. The mean values of the haematological parameters in α, β-thalassaemia and β-thalassaemia carriers were compared. RESULTS Significant differences in mean corpuscular volume (MCV), mean corpuscular haemoglobin (MCH) and HbA2 were found between the two groups. Patients who were α, β-thalassaemia carriers had higher mean values of MCV and MCH, whereas HbA2 levels were higher in simple β-thalassaemia. No marked differences were found in mean cell haemoglobin (Hb) concentration and Hb blood cell indices. The value of MCV, MCH and HbA2 were significantly different between α,β-thalassaemia and simple β-thalassaemia in men and women, but the mean values of Hb in the two groups differed markedly only in men. CONCLUSIONS We conclude that co-inheritance of α- and β-thalassaemia mutations may result in misdiagnosis of β-thalassaemia carriers. Therefore, in genetic counselling of patients with a near-normal range of blood cell indices the possibility that they may carry α, β-thalassaemia mutations must be considered.

UI MeSH Term Description Entries
D008297 Male Males
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D011237 Predictive Value of Tests In screening and diagnostic tests, the probability that a person with a positive test is a true positive (i.e., has the disease), is referred to as the predictive value of a positive test; whereas, the predictive value of a negative test is the probability that the person with a negative test does not have the disease. Predictive value is related to the sensitivity and specificity of the test. Negative Predictive Value,Positive Predictive Value,Predictive Value Of Test,Predictive Values Of Tests,Negative Predictive Values,Positive Predictive Values,Predictive Value, Negative,Predictive Value, Positive
D004252 DNA Mutational Analysis Biochemical identification of mutational changes in a nucleotide sequence. Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA
D004909 Erythrocyte Indices ERYTHROCYTE size and HEMOGLOBIN content or concentration, usually derived from ERYTHROCYTE COUNT; BLOOD hemoglobin concentration; and HEMATOCRIT. The indices include the mean corpuscular volume (MCV), the mean corpuscular hemoglobin (MCH), and the mean corpuscular hemoglobin concentration (MCHC). Erythrocyte Hemoglobin, Mean Cell,Erythrocyte Size Determination,Erythrocyte Volume, Mean Cell,Hemoglobin, Erythrocyte, Mean Cell,Mean Corpuscular Volume,Red Cell Indices,Erythrocyte Diameter,Erythrocyte Index,Erythrocyte Indexes,Erythrocyte Thickness,Mean Cell Hemoglobin Concentration,Mean Cell Volume,Mean Corpuscular Hemoglobin,Mean Corpuscular Hemoglobulin Concentration,Red Cell Distribution Width,Red Cell Index,Red Cell Indexes,Cell Volumes, Mean,Corpuscular Volumes, Mean,Determination, Erythrocyte Size,Determinations, Erythrocyte Size,Diameter, Erythrocyte,Diameters, Erythrocyte,Erythrocyte Diameters,Erythrocyte Size Determinations,Hemoglobin, Mean Corpuscular,Hemoglobins, Mean Corpuscular,Index, Erythrocyte,Index, Red Cell,Indexes, Erythrocyte,Indexes, Red Cell,Indices, Erythrocyte,Indices, Red Cell,Mean Cell Volumes,Mean Corpuscular Hemoglobins,Mean Corpuscular Volumes,Size Determination, Erythrocyte,Size Determinations, Erythrocyte,Thickness, Erythrocyte,Volume, Mean Cell,Volume, Mean Corpuscular,Volumes, Mean Cell,Volumes, Mean Corpuscular
D004912 Erythrocytes Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN. Blood Cells, Red,Blood Corpuscles, Red,Red Blood Cells,Red Blood Corpuscles,Blood Cell, Red,Blood Corpuscle, Red,Erythrocyte,Red Blood Cell,Red Blood Corpuscle
D005260 Female Females
D005787 Gene Frequency The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION. Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies
D005819 Genetic Markers A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event. Chromosome Markers,DNA Markers,Markers, DNA,Markers, Genetic,Genetic Marker,Marker, Genetic,Chromosome Marker,DNA Marker,Marker, Chromosome,Marker, DNA,Markers, Chromosome

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