Hemoglobin knossos: A clinical, laboratory, and epidemiological study

Fessas, Phaedon; Loukopoulos, Dimitris; Kokkinou, Stavroula; Papasotiriou, Yannis; Karaklis, A

doi:10.1002/ajh.2830210202

Cited by 16 publications

(6 citation statements)

References 28 publications

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“…In the TM group a 6-year-old patient from the United Arab Emirates was found to be a compound heterozygous for the Hb Knossos and the NS 39 mutations. This girl was clearly transfusion dependent with a steady state Hb < 5 g/dl indicating that Hb Knossos is not regularly associated with a TI phenotype as suggested previously (Fessas et al, 1986;Baklouti et al, 1986;Altay & Gurgey, 1990;Olds et al, 1991). Similarly, the ¹87 C-G mutation in the b-globin promoter is found in two TM patients.…”

Section: Discussionsupporting

confidence: 68%

Beta‐thalassaemia in the immigrant and non‐immigrant German populations

et al. 1997

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Summary.In Germany homozygous b-thalassaemia mainly occurs in the immigrant population from endemic regions. In non-immigrants b-thalassaemia is rare. Heterozygous b-thalassaemia minor, however, is more common and must be considered in the differential diagnosis of hypochromic anaemia. The clinical and molecular data of 221 homozygous patients and 256 non-immigrant German heterozygous individuals are presented. Clinically, 87% (n ¼ 192) of the homozygotes are classified as thalassaemia major (TM) and the other 13% as thalassaemia intermedia (TI). There is a wide spectrum of 39 thalassaemia mutations which occur with relatively low frequencies in individual cases. In 17/29 TI patients 'mild' mutations have been found and in 16/29 there are mutations that are associated with increased g-globin gene activity. a-Thalassaemia is rare and found only in 3/29.In the 256 Germans with heterozygous b-thalassaemia there are 27 different thalassaemia mutations. The three most common are Mediterranean, together accounting for 61%. Also relatively common (5%) is an otherwise rare frameshift mutation of codon 83 (FS83 DG). The other mutations occur in < 10 individuals. Two mutations described here are novel. One of them affects position ¹2 of the intron 1 splice acceptor site (IVSI-129 A-G) and the other is a deletion of a single G in codon 15/16 (FS 15/16 DG). These data suggest that b-thalassaemia in Germans was introduced from the Mediterranean in about two-thirds of cases and that the remaining third has probably originated locally.

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Section: Discussionsupporting

confidence: 68%

Beta‐thalassaemia in the immigrant and non‐immigrant German populations

et al. 1997

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“…In heterozygous state, the mutation results in mild bthalassemia phenotype with a normal HbA2 level, whereas the homozygous state results in intermediate b-thalassemia [9,10]. It's slightly decreased oxygen affinity may account for the observed phenotypes [11].…”

Section: Introductionmentioning

confidence: 99%

Hb Knossos: HBB:c.82G>T Associated with HBB:c.315+1G>A Beta Zero Mutation Causes Thalassemia Intermedia

Nasouhipur

Banihashemi

Kamangar

et al. 2014

Indian J Hematol Blood Transfus

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β-thalassemia is the most common single gene disorder worldwide and in Iran. In the present study we report for the first time a rare variant of hemoglobin HBB:c.82G>T; Codon 27 GCC→TCC (Ala→Ser), Hb Knossos, using sequencing and reverse dot blot hybridization, in members of a family from North Iran. The family has a 16 years-old compound heterozygous thalassemia intermedia male child presenting this variant together with HBB:c.315+1G>A (IVSII-I) mutation. The father, heterozygous for Hb Knossos, showed borderline hematological indices. To our knowledge, this is the first report of Hb Knossos in trans with the β(O) IVSII-I allele leading to thalassemia intermedia. Our data also highlight the necessity of deep molecular characterization of subjects presenting normal HbA2 level associated with abnormal or borderline red cell indices.

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“…Thalassemia intermedia may also be caused by hemoglobin variants, alone or on interaction with ␤-thalassemia, which either have reduced synthesis and/or stability [18][19][20][21]. In this latter category altered oxygen binding properties may also play a role in modifying the clinical expression.…”

Section: Discussionmentioning

confidence: 99%