?-thalassemia in the German population: Mediterranean, Asian and novel mutations

Flatz, G.; Wilke, Klaus; Syagailo, Yana V.; Eigel, Antonin; Horst, Jürgen

doi:10.1002/(sici)1098-1004(1999)13:3<258::aid-humu16>3.0.co;2-4

Cited by 8 publications

(3 citation statements)

References 7 publications

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“…This was the beginning of a new subspecialty within hematology (5,16). For many years, the diseases diagnosed in this way were regarded as exotic curiosities (7,11,22).…”

Section: Discussionmentioning

confidence: 99%

Hemoglobinopathies in Germany

Kohne

Kleihauer²

2010

Deutsches Ärzteblatt International

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These data show that hemoglobinopathies are a relevant health problem in the population of Germany today. This is not an epidemiological study, and thus it is unknown to what extent these data are representative. Because hemoglobin defects are of widely diverse genetic and clinical types, specialized laboratory analysis is needed to diagnose them correctly and provide a basis for proper therapeutic decisions.

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“…This was the beginning of a new subspecialty within hematology (5,16). For many years, the diseases diagnosed in this way were regarded as exotic curiosities (7,11,22).…”

Section: Discussionmentioning

confidence: 99%

Hemoglobinopathies in Germany

Kohne

Kleihauer²

2010

Deutsches Ärzteblatt International

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“…IVS1-1 (G→A) is a Mediterranean β-thalassemia mutation [16] and has been frequently reported in Italy [19], Sicily [6], in about 13% of Egyptian [7], and 17.3% of Lebanese [27] β-thalassemia patients. Recent studies showed this mutation in β-thalassemia patients outside the Mediterranean region, for example in Germany [8], Northern Ireland [14], and Indonesia [15]. The Malays show a more heterogeneous pool of gene mutations compared with the other Malaysian ethnic groups (Chinese, Indians, and Orang Asli) [22].…”

Section: Discussionmentioning

confidence: 84%

Interaction of Hb South Florida (codon 1; GTG→ATG) and HbE, with β-thalassemia (IVS1-1; G→A): expression of different clinical phenotypes

Tan

Omar

et al. 2008

Eur J Pediatr

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“…Different classes of HBB mutations underlie betathalassemia, in descending order of frequency: missense/nonsense [25,26], splicing [27], regulatory [28], small or gross gene deletions [27,29], including the common deletion of the terminal portion of HBB [30], gene insertions [31], small insertion-deletions [32], and complex rearrangements [33]. In rare instances, the causative defect is due to a deletion of the LCR [18], mutations in another gene within [34] or outside [16] the beta-globin locus.…”

Section: Variants Of Beta-thalassemiamentioning

confidence: 99%

Understanding Beta-Thalassemia with Focus on the Indian Subcontinent and the Middle East

Lahiry¹,

Al-Attar²,

Ra³

2008

TOHJ

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Beta-thalassemia is one of the most prevalent autosomal disorders in the world. Mutations in the HBB gene underlie deficiencies in hemoglobin production, which can interfere with oxygen delivery resulting in wide range of disease severity. Although >535 mutations have been characterized in the HBB gene, beta-thalassemia is broadly classified into three groups, based on clinical severity: beta-thalassemia major, beta-thalassemia intermedia and beta-thalassemia minor. In this article we review: 1) the molecular and biochemical basis of beta-thalassemia; 2) clinical features; 3) the range of common molecular variants of beta-thalassemia in a subset of geographic regions within the Indian Subcontinent and the Middle East; 4) potential molecular diagnostics; and 5) current and future treatments. We suggest that efforts to more completely characterize the HBB mutation distribution in high-risk areas, such as the Indian Subcontinent and the Middle East, may lead to improved diagnosis with earlier and more effective intervention strategies.

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?-thalassemia in the German population: Mediterranean, Asian and novel mutations

Cited by 8 publications

References 7 publications

Hemoglobinopathies in Germany

Hemoglobinopathies in Germany

Interaction of Hb South Florida (codon 1; GTG→ATG) and HbE, with β-thalassemia (IVS1-1; G→A): expression of different clinical phenotypes

Understanding Beta-Thalassemia with Focus on the Indian Subcontinent and the Middle East

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