High frequency of deletional α‐thalassemia in β‐thalassemia trait: Implications for genetic counseling

Panigrahi, Inusha; Rafeeq, P.H. Ahmed; Choudhry, V. P.; Saxena, Renu

doi:10.1002/ajh.20083

Cited by 9 publications

(7 citation statements)

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“…The frequency of -á 3.7 deletion in thalassemia trait is 10.3%. A recent study has shown a high frequency of carrier status in â-thalassemia trait (Panigrahi et al 2004) and its implication in prenatal diagnosis. The coinheritance of á-gene deletion and triplication with â-thalassemia is important as a factor modifying the phenotypic expression.…”

Section: Discussionmentioning

confidence: 99%

Genotyping of alpha-thalassemia in microcytic hypochromic anemia patients from North India

et al. 2006

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Microcytic hypochromic anemia is a common condition in clinical practice and alpha-thalassemia has to be considered as a differential diagnosis. Molecular diagnosis of alpha-thalassemia is possible by polymerase chain reaction. The aim of this study was to evaluate the frequency of alpha-gene numbers in subjects with microcytosis. In total, 276 subjects with microcytic hypochromic anemia [MCV<80fl; MCH<27pg] were studied. These include 125 with thalassemia trait, 48 with thalassemia major, 26 with sickle-cell thalassemia, 15 with E beta-thalassemia, 40 with iron-deficiency anemia, 8 with another hemolytic anemia, and 14 patients with no definite diagnosis. Genotyping for -alpha3.7 deletion, -alpha4.2 deletion, Hb Constant Spring, and a-triplications was done with polymerase chain reaction. The overall frequency of -alpha3.7 deletion in 276 individuals is 12.7%. The calculated allele frequency for a-thalassemia is 0.09. The subgroup analysis showed that co-inheritance of a-deletion is more frequent with the sickle-cell mutation than in other groups. We were able to diagnose 1/3 of unexplained cases of microcytosis as a-thalassemia carriers. The a-gene mutation is quite common in the Indian subcontinent. Molecular genotyping of a-thalassemia helps to diagnose unexplained microcytosis, and thus prevents unnecessary iron supplementation.

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Section: Discussionmentioning

confidence: 99%

Genotyping of alpha-thalassemia in microcytic hypochromic anemia patients from North India

et al. 2006

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“… 7 , 8 Most alpha thalassemia cases in India have been reported among tribal populations 8 , 9 with βTT and other hemoglobinopathies but its co-existence with IDA has never been studied. 7 , 10 – 13 Iron deficiency is highly prevalent in India and with the reportedly high frequency of α thalassemia the likelihood of the two conditions coexisting can be expected to be high. The Discrimination between microcytosis due to the two conditions is not only clinically significant but is often difficult even more so when they coexist.…”

Section: Introductionmentioning

confidence: 99%

Prevalence of Alpha Thalassemia in Microcytic Anemia: A Tertiary Care Experience From North India

Sharma

Pandey

Ranjan

et al. 2015

Mediterr J Hematol Infect Dis

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IntroductionCases with microcytosis not responding adequately to iron supplementation are diagnostic dilemma and have been reported to harbor alpha (α) thalassemia mutations. The aim of this study was to determine the common α globin gene deletions in cases with microcytic anemia.MethodsFifty four patients selected (22 females and 32 males) had microcytic anemia (MCV < 80 fl, Hb <12gm/dl) with raised TRBC (> 5M/mm3) but normal Hb HPLC. They had either low or normal Transferrin Saturation (TS). Gap-PCR for four common α-gene deletions (-α3.7, -α4.2, - -αSA and --αSEA) was done.ResultsOut of the total fifty-four cases nineteen (35.2%) cases were found to have α gene mutations; Three homozygous and sixteen heterozygous cases including -α3.7 deletions and a single case of -- α SA ; but no -α4.2 and –SEA mutations were found.Conclusionα gene mutations can confound iron deficiency anemia, but no RBC indices, or a discriminant function can identify it is presence Molecular studies have to be resorted to. Gap PCR for common α thalassemia mutation including –α SA should be done even in the face of low iron stores in subjects who respond incompletely to iron supplementation.

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“…The incidence of double heterozygosity for different types of thalassemias is high in populations where thalassemia is frequent and the most common form of this situation is the combining heterozygosity for β thalassemia and α thalassemia (11). As is known, α thalassemia carried by β thalassemia heterozygotes is deletional type (12) and red cell parameters in β thalassemia heterozygotes combining deletional α thalassemia are found to be similar to those in pure β thalassemia (13), as also observed in the mother. Instead, these two clinical conditions have come together in the index case, and this coexistence led to the clinical symptoms.…”

Section: Discussionmentioning

confidence: 58%

Alpha thalassemia in a Symptomatic Carrier of Familial Mediterranean Fever

Aslan¹

2013

gmj

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Alpha thalassemia and Familial Mediterranean Fever (FMF) are two diseases that affect the same societies native to the Mediterranean basin and have overlapping genetic localizations. Deletions resulting in alpha thalassemia have the potential to affect the neighboring MEFV gene (MEFV) and to lead to symptoms in FMF carriers. We herein present a symptomatic FMF carrier with coexistence of these two genetic diseases. This report may provide a simple explanation for an age-old mystery of how FMF can occur with a single mutation.

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High frequency of deletional α‐thalassemia in β‐thalassemia trait: Implications for genetic counseling

Cited by 9 publications

References 9 publications

Genotyping of alpha-thalassemia in microcytic hypochromic anemia patients from North India

Genotyping of alpha-thalassemia in microcytic hypochromic anemia patients from North India

Prevalence of Alpha Thalassemia in Microcytic Anemia: A Tertiary Care Experience From North India

Alpha thalassemia in a Symptomatic Carrier of Familial Mediterranean Fever

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