Alpha-thalassemia should be considered in the differential diagnosis of a child with anemia

Viana, Marcos Borato; Oliveira, Benigna Maria de

doi:10.2223/jped.2081

Cited by 5 publications

(3 citation statements)

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“… 1 , 2 , 37 , 38 A report on alpha thalassemia with anemia in children’s revealed it should be considered differential diagnosis. 39 On comparing the hematological parameters within the four groups, group 1( IDA cases) had the most pronounced microcytosis even more than the cases with IDA coexistent with α thalassemia mutation (group 3) which had more than that of α thalassemia cases (group 4). 1 (MCV group1 <group3< group4 < group2).…”

Section: Discussionmentioning

confidence: 93%

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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Section: Discussionmentioning

confidence: 93%

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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“…The α chain genes are located on chromosome 16, and normal individuals have two α genes on each chromosome with this genotype being represented as αα/αα. 12 The α3.7 deletion, which causes the most common form of alpha-thalassemia in Brazil, 13 is the result of an unequal cross-over exhibiting a loss of a 3.7 kb DNA fragment. 14 Recent Brazilian studies show different prevalences for the α3.7 genotype according to the geographical ancestry of the individuals studied: 4.5% in European and 21.5% in African descendants, 15 data similar to those obtained in populations of African descents by Sonati et al 16 Brazilian studies analyzing alpha-thalassemia in individuals with Hb SS present prevalences of α3.7 heterozygous individuals of from 17.6 to 28.2%, according to the geographic region.…”

Section: Introductionmentioning

confidence: 99%

“… 14 Recent Brazilian studies show different prevalences for the α3.7 genotype according to the geographical ancestry of the individuals studied: 4.5% in European and 21.5% in African descendants, 15 data similar to those obtained in populations of African descents by Sonati et al 16 Brazilian studies analyzing alpha-thalassemia in individuals with Hb SS present prevalences of α3.7 heterozygous individuals of from 17.6 to 28.2%, according to the geographic region. 9–11,13,17 …”

Section: Introductionmentioning

confidence: 99%

Molecular analysis and association with clinical and laboratory manifestations in children with sickle cell anemia

Camilo-Araújo

Amâncio

Figueiredo

et al. 2014

Revista Brasileira de Hematologia e Hemoterapia

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ObjectivesTo analyze the frequency of βS-globin haplotypes and alpha-thalassemia, and their influence on clinical manifestations and the hematological profile of children with sickle cell anemia.MethodThe frequency of βS-globin haplotypes and alpha-thalassemia and any association with clinical and laboratorial manifestations were determined in 117 sickle cell anemia children aged 3–71 months. The confirmation of hemoglobin SS and determination of the haplotypes were achieved by polymerase chain reaction-restriction fragment length polymorphism, and alpha-thalassemia genotyping was by multiplex polymerase chain reaction (single-tube multiplex-polymerase chain reaction).ResultsThe genotype distribution of haplotypes was 43 (36.7%) Central African Republic/Benin, 41 (35.0%) Central African Republic/Central African Republic, 20 (17.0%) Rare/atypical, and 13 (11.1%) Benin/Benin. The frequency of the α3.7 deletion was 1.71% as homozygous (−α3.7/−α3.7) and 11.9% as heterozygous (−α3.7/αα). The only significant association in respect to haplotypes was related to the mean corpuscular volume. The presence of alpha-thalassemia was significantly associated to decreases in mean corpuscular volume, mean corpuscular hemoglobin and reticulocyte count and to an increase in the red blood cell count. There were no significant associations of βS-globin haplotypes and alpha-thalassemia with clinical manifestations.ConclusionsIn the study population, the frequency of alpha-thalassemia was similar to published data in Brazil with the Central African Republic haplotype being the most common, followed by the Benin haplotype. βS-globin haplotypes and interaction between alpha-thalassemia and sickle cell anemia did not influence fetal hemoglobin concentrations or the number of clinical manifestations.

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Infectious and Inflammatory Disorders

Tsukahara

Yashiro

Nagaoka

et al. 2014

Studies on Pediatric Disorders

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Alpha-thalassemia should be considered in the differential diagnosis of a child with anemia

Cited by 5 publications

References 4 publications

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

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

Molecular analysis and association with clinical and laboratory manifestations in children with sickle cell anemia

Infectious and Inflammatory Disorders

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