Hb Icaria–Hb H disease: identification of the Hb Icaria mutation through analysis of amplified DNA

Ефремов, Г. Д.; Josifovska, O.; Nikolov, Nikolay; Codrington, John; Öner, Cihan; Gonzalez‐Redondo, J. M.; Huisman, T. H. J.

doi:10.1111/j.1365-2141.1990.tb02658.x

Cited by 24 publications

(5 citation statements)

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“…Since the initial characterization of Hb Icaria (Clegg et al, 1974) in a heterozygote female (I. Contopoulou-Griva, personal communication) there has only been one report of Hb Icaria-HbH disease in a Yugoslavian patient in whom the clinical and haematological findings were somewhat milder than in the Hb Icaria-HbH patients in this report (Efremov et al, 1990). The clinical and haematological phenotype of our patients is more consistent with those found in Hb Constant Spring-HbH patients frequently observed in SE Asia where HbCS-HbH disease is considered to be a severe form of HbH disease (Fucharoen et al, 1988) and haematologically distinct from classic HbH disease with relatively large (mean MCV 76 : 3 6 5 : 9) but hypochromic red blood cells (Bunyaratvej et al, 1992) (see Table I).…”

Section: Discussionmentioning

confidence: 58%

The interaction of α° thalassaemia with Hb Icaria: three unusual cases of haemoglobinopathy H

et al. 1996

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The clinical, haematological, biosynthetic and molecular data of three Greek haemoglobin H (HbH) disease patients with a distinctive clinical phenotype are described. During infancy all three patients had unusually severe clinical manifestations for HbH disease, with anaemia necessitating blood transfusions, signs of bone changes, growth impairment, and splenomegaly. Molecular analysis identified a rare alpha-thalassaemia genotype (--Med/ alpha Ic alpha). Splenectomy resulted in marked amelioration of the clinical signs; post splenectomy all three patients preserve adequate haemoglobin levels (9-10 g/dl) with growth restored to normal. Despite the initial severe clinical phenotype in these patients, our experience indicates that splenectomy modifies the clinical course to that of mild thalassaemia intermedia. This observation should be considered carefully when giving genetic counselling to families carrying the rare Hb Icaria mutation and an alpha zero thalassaemia mutation.

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Section: Discussionmentioning

confidence: 58%

The interaction of α° thalassaemia with Hb Icaria: three unusual cases of haemoglobinopathy H

et al. 1996

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“…The same mutation has also been described, though less frequently, in other Mediterranean countries [32]. Likewise, the termination codon mutation in the &,-globin gene was first described in a Greek individual [18] and has since only been reported in one Yugoslavian [33] and two Greek patients [30].…”

Section: Discussionmentioning

confidence: 62%

Nondeletional α-thalassemia: First description of αHphα and αNcoα mutations in a Spanish population

et al. 1996

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Several different deletions underlie the molecular basis of a-thalassemia. The most common a-thalassemia determinant in Spain is the rightward deletion (-a".'). To our knowledge, however, no cases of a-thalassemia due to nondeletional mutations have so far been described in this particular Mediterranean area. Here, we report the existence of nondeletional forms of a-thalassemia in ten Spanish families. The a,-globin gene was characterized in ten unrelated patients and their relatives only when the presence of deletional a-thalassemia was ruled out. The a,-globin gene analysis was performed using the polymerase chain reaction (PCR) followed by restriction enzyme analysis or by allelespecific priming. This allowed the identification of a 5-base pair (bp) deletion at the donor site of IVS I (aHPha) in 9 cases and the a, initiation codon mutation (aNcoa) in one case. Although these a2-globin gene mutations are found in other Mediterranean areas, our results demonstrate their presence in the Spanish population and suggest that the a H P h d genotype is probably the most common nondeletional form of a-thalassemia in Spain. o 1996 Wiley-Liss, Inc.

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“…They are Hbs Constant Spring (2-9), Koya Dora (1 0,l l ) , lcaria (12,13), Pakse (14), and Seal Rock. Of these, Hb Seal Rock was incompletely characterized and reported (but unnamed) in abstract (1 5).…”

Section: Introductionmentioning

confidence: 99%

HB Seal Rock [(α2)142 Term→glu, Codon 142 TAA→GAA]: An Extended α Chain Variant Associated with Anemia, Microcytosis, and α-Thalassemia-2 (-3.7 KB)

et al. 1997

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Hb Seal Rock was first reported in a young African-American women and her 2-year-old daughter (1). It is an extended alpha chain variant which, like Hb Constant Spring, is present in small quantity and is expressed as an alpha-thalassemia. The mutation, TAA-->GAA affects codon 142 of the alpha 2 gene. In this family, the index case was a compound heterozygote for Hb Seal Rock trait and for alpha-thalassemia trait (-3.7 kb). Her hematologic expression was similar to mild Hb H disease, presumably because the Seal Rock mutation affects the alpha 2 gene that is normally responsible for approximately 70% of alpha-globin synthesis. Her daughter had only Hb Seal Rock trait, but was phenotypically alpha-thalassemia-2 trait due to the expression of the Seal Rock mutation on one of her alpha 2-globin genes, the other three alpha-globin genes being unaffected.

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Hb Icaria–Hb H disease: identification of the Hb Icaria mutation through analysis of amplified DNA

Cited by 24 publications

References 10 publications

The interaction of α° thalassaemia with Hb Icaria: three unusual cases of haemoglobinopathy H

The interaction of α° thalassaemia with Hb Icaria: three unusual cases of haemoglobinopathy H

Nondeletional α-thalassemia: First description of αHphα and αNcoα mutations in a Spanish population

HB Seal Rock [(α2)142 Term→glu, Codon 142 TAA→GAA]: An Extended α Chain Variant Associated with Anemia, Microcytosis, and α-Thalassemia-2 (-3.7 KB)

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