2002
DOI: 10.1080/08880010290097431
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RED BLOOD CELL INDEXES IN PATIENTS WITH HEREDITARY SPHEROCYTOSIS AND Β-Thalassemia COMBINATION

Abstract: The spontaneous occurrence of hereditary spherocytosis (HS) and beta-thalassemia in the same patient is a rare event. The mean corpuscular hemoglobin concentration is elevated above the reference range in half to two-thirds of patients with HS, but there are no data for the HS/beta-thal combinations for the red blood cell indexes. This study reassessed these values in these particular patients. Hemoglobin, hematocrit, mean corpuscular volume (MCV), mean corpuscular hemoglobin concentration (MCHC), red cell dis… Show more

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Cited by 9 publications
(6 citation statements)
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“…Only one of our patients, Case 1, would have met this criterion. Even otherwise, in our experience, and that of others [9], it performs considerably less well, possibly due to interference from highly prevalent disorders like α-and β-thalassemia and iron deficiency.…”
Section: Discussionmentioning
confidence: 51%
“…Only one of our patients, Case 1, would have met this criterion. Even otherwise, in our experience, and that of others [9], it performs considerably less well, possibly due to interference from highly prevalent disorders like α-and β-thalassemia and iron deficiency.…”
Section: Discussionmentioning
confidence: 51%
“…Because the two different erythrocytes defects will interfere with the relevant laboratory results, α-thalassaemia combined with HS is easily misdiagnosed or missed. Akar and Gökçe ( 16 ) reported that 13 patients with combined HS and β-thalassaemia from 10 families. Compared to patients with HS alone, MCHC was increased, but MCV and MCH were obviously diminished in patients with combined HS and β-thalassaemia.…”
Section: Discussionmentioning
confidence: 99%
“…All exons including exon/intron boundaries of the P4.1 gene that is often a cause of Japanese elliptocytosis, were also analyzed (16). Other membrane proteins, ankyrin and Band 3 were also investigated considering their frequency of abnormality in the Japanese population; exons 1,5,6,16,17,22,26,28,31 and 38, and exons 5 and 6 were analyzed for ankyrin and Band 3 genes, respectively ( Table 2). The presence of Southeast Asian type ovalocytosis (SAO) by Band 3 mutation was also analyzed.…”
Section: Dna Analysismentioning
confidence: 99%
“…Combination of hereditary spherocytosis (HS) and β-thal is very rare. Only a few cases have been reported about the combination of autosomal dominant type HS and β-thal, and generally, this combination results in varying severity of β-thal phenotype (6,7). However, no cases have been reported on the combination of a β-thal mutation and P4.2 abnormality that is autosomal recessive.…”
mentioning
confidence: 92%
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