Silent β-Thalassemia Associated with Hb Knossos β27 (B9) Ala→Ser in Algeria

Rouabhi, F.; Chardin, Pierre Teilhard de; Boissel, Jean-Pièrre; Beghoul, F.; Labie, Dominique; Benabadji, M.

doi:10.3109/03630268309027935

Cited by 8 publications

(3 citation statements)

References 7 publications

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“…Yet, the propositi are in good clinical condition and have grown up to being normal women and mothers without any tranfusional assistance, despite their extremely low hemoglobin levels (6-7 g/dl usually). The two Algerian compound heterozygotes (one with Hb KnossoslP-thalassemia [4]) and another with Hb KnossodHb Lepore [6] display similarly a mild clinical condition. However, the latter case is characterized by a relatively high hematocrit (37.5 %).…”

Section: Discussionmentioning

confidence: 99%

Hemoglobin knossos: A clinical, laboratory, and epidemiological study

et al. 1986

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Hb Knossos is a beta-chain variant (beta 27 Ser----Ala) that is unrecognizable by conventional separation methods but detectable by globin electrophoresis on urea-Triton X-acrylamide gels or by IEF. Hb Knossos is characterized by reduced synthesis and by interaction with beta-thalassemia, in which the double heterozygotes display typical features of thalassemia intermedia. The present paper summarizes the salient genetic, clinical, and biochemical characteristics of five such cases hitherto identified in three families along with the same features on 12 heterozygous Hb Knossos carriers. Hb Knossos displays a slightly decreased oxygen affinity; this factor may compensate in part for the severe anemia of the double heterozygotes. Hb Knossos is relatively rare in our population, since a prospective survey on 610 individuals has failed to disclose any heterozygotes. However, the mutation appears to have spread over the Mediterranean countries and may be more common elsewhere.

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Section: Discussionmentioning

confidence: 99%

Hemoglobin knossos: A clinical, laboratory, and epidemiological study

et al. 1986

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“…25,26 Hb Knossos (fl 27 (B9) Ala-Ser) in the heterozygous state has been recently recognized as the underlying abnormality in atypical microcytosis 25,27 First identified in a family from Crete, Hb Knossos was discovered soon afterwards in two families from northeast Algeria and in a family from the French West Indies. 28,29…”

Section: Discussionmentioning

confidence: 99%

The predominance of codon 39 (c>t) mutation of HBB gene in a portion of the Algerian population (Northeast Algeria)

et al. 2017

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This study was planned to determine the frequency of β-thalassemia mutations in Batna region (Northeast Algeria). Nineteen blood samples of clinically thalassemic children patients were collected from Department of Pediatrics, University Hospital of Batna. We carried out the molecular genetics of beta globin gene by the method of minisequencing using Snapshot™ kit (Applied Biosystems) in search of the four most common HBB genetic variants including three β-thalassemia mutations: codon 39(C>T) (HBB: c.118C>T), IVSI-110(G>A) (HBB: c.93-21G>A), and IVSI-1-2(T>G) (HBB: c.92+2T>G), as well as the hemoglobin S variant (HBB: c.20A>T). We used direct DNA sequencing to detect the rare mutations of beta-globin gene. We have revealed the presence of four different β-globin gene mutations responsible for β-thalassemia in Batna region. According to our results, the nonsense mutation at codon 39 (C>T) is the most frequent mutation type in our province, the same as other geographical regions of Algeria. It is followed by codon 54(-T), detected in a second Algerian family (the proband was homozygote), and the first association of Hb Knossos: codon 27 (G>T) allele with codon 39 (C>T) in the Algerian population. Here we reportws also the association of codon 39(C>T) with IVS-I-110 (G>A). Our preliminary results show the predominance of codon 39 (c>t) mutation of HBB gene in Batna region.

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“…First identified in a family from Crete,Hb Knossos was discovered soon afterwards in two families from northeast Algeria and in a family from the French West Indies. (Rouabhi F et al ., 1983;Morl L et al .,1984).…”

Section: Discussion:-mentioning

confidence: 99%

Molecular Study on Βeta-Thalassemia Children Patients in a Portion of the Algerian Population (Northeast Algeria)

Kamilia¹,

Mouloud²,

Abla³

et al. 2016

IJAR

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Objective:-This study was planned to determine the frequency of ßthalassemia mutations in Batna region (northeast Algeria). Materials and Methods:-19 blood samples of clinically thalassemic children patients were collected from department of pediatrics, university hospital of Batna. We carried out the molecular genetics of beta globin gene by the method of minisequencing using Snapshot ™ kit (Applied Biosystems) in search of the four most common HBB genetic variants including three β-thalassemia mutations: codon 39(C>T) (HBB: c.118C>T), IVSI-110(G>A) (HBB: c.93-21G>A) and IVSI-1-2(T>G) (HBB: c.92+2T>G), as well as the hemoglobin S variant (HBB: c.20A>T) and we used direct DNA sequencing to detect the rare mutations of beta-globin gene. Results:-We have revealed the presence of four different β-globin gene mutations responsible for β-Thalassemia in region of Batna. According to our results; the nonsense mutation at codon 39 (C>T), is the most frequent mutation type in our province the same as other geographical regions of Algeria, followed by codon 54(-T), this molecular lesion was detected in a second Algerian family; the proband was homozygote, and the first association of Hb Knossos: codon 27 (G>T) allele with codon 39 (C>T) in Algerian population. Here we report also association of codon 39(C>T) with IVS-I-110 (G>A). Conclusion:-our preliminary results show the heterogeneity of the beta-thalassemia mutations in the region of Batna.

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Silent β-Thalassemia Associated with Hb Knossos β27 (B9) Ala→Ser in Algeria

Cited by 8 publications

References 7 publications

Hemoglobin knossos: A clinical, laboratory, and epidemiological study

Hemoglobin knossos: A clinical, laboratory, and epidemiological study

The predominance of codon 39 (c>t) mutation of HBB gene in a portion of the Algerian population (Northeast Algeria)

Molecular Study on Βeta-Thalassemia Children Patients in a Portion of the Algerian Population (Northeast Algeria)

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