Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset  -thalassemia major

Harteveld, Cornelis L.; Refaldi, Chiara; Giambona, Antonino; Ruivenkamp, Claudia; Hoffer, Mariëtte J.V.; Pijpe, Jeroen; Knijff, Peter de; Borgna‐Pignatti, Caterina; Maggio, Aurelio; Cappellini, Maria Domenica; Giordano, Piero C.

doi:10.3324/haematol.2012.065219

Cited by 11 publications

(8 citation statements)

References 20 publications

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“…High-oxygen-affinity variants may cause rheological complications, especially when combined with b-thalassemia [43]. 14 In some cases, b-thalassemia carriers may present with intermediate or even severe anemia due to a semi-dominant b-thalassemia mutation [20] or to additional a-genes [44] and/or become transfusion dependent later in life due to uniparental isodysomy [45]. 15 Finally, apparently stable and hematologically normal hemoglobin variants with isoelectric point and hydrophilic interaction identical to HbA are not separable with any of the available technologies and will never be detected unless some genetic effect appears in the progeny due to combination with thalassemia or HbS.…”

Section: Tips and Pitfallsmentioning

confidence: 99%

Strategies for basic laboratory diagnostics of the hemoglobinopathies in multi‐ethnic societies: interpretation of results and pitfalls

Giordano

2012

Int J Lab Hematology

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Summary The consistent multi‐ethnic migrations of the last decades have considerably changed the epidemiology of the hemoglobinopathies. Healthy carriers of these conditions are present today in many nonendemic parts of the world, and severely affected children are now born where these diseases were previously rare or unknown. Improving the competence in carrier diagnostics at the laboratory level is one of the first concerns when introducing management and primary prevention of the severe conditions in nonendemic areas. This review describes how and when carriers should be correctly diagnosed and informed. The essential technologies needed for basic carrier diagnostics in different situations are summarized in some detail, and interpretation of the results and a number of related problems are discussed. The role of the hematology laboratory is essential, particularly in nonendemic areas where the first line of health care is often insufficiently aware of hemoglobinopathy management. Carriers living in nonendemic areas can be appropriately diagnosed and informed regarding genetic risk and prevention by well‐organized laboratories. Both basic and specialized diagnostics are needed for the correct treatment for the anemic carriers, for primary prevention in couples at risk and for state‐of‐the art care of severely affected patients.

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Section: Tips and Pitfallsmentioning

confidence: 99%

Strategies for basic laboratory diagnostics of the hemoglobinopathies in multi‐ethnic societies: interpretation of results and pitfalls

Giordano

2012

Int J Lab Hematology

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“…Another mechanism to account for late‐onset severe β‐thalassemia phenotype in β‐thalassemia carriers is mosaic segmental uniparental isodisomy …”

Section: Loss Of Heterozygosity In β‐Thalassemia Carriersmentioning

confidence: 99%

Diverse hematological phenotypes of β‐thalassemia carriers

Luo

Chui

2016

Annals of the New York Academy of Sciences

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Most β-thalassemia carriers have mild anemia, low mean corpuscular volume and mean corpuscular hemoglobin, and elevated hemoglobin α2 (HbA2 ). However, there is considerable variability resulting from coinheritance with α- and/or δ-globin gene mutations, dominant inheritance of β-thalassemia mutations, highly unstable variant globin chains, large deletions removing part or all of the β-globin gene cluster, loss of heterozygosity of the β-globin gene cluster during development, or concomitant erythroid enzyme or membrane protein abnormalities. Recognition of the specific abnormality and correct diagnosis can allay anxiety and unnecessary investigation, help formulate treatment programs, and deliver appropriate genetic and family counseling.

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“…Sex only could eventually be linked with a more rapid evolution in TM: before 30 years for women versus after 40 years for men. Interestingly, despite several authors [4][5][6] have described the clinical worsening of the disease, none has yet been able to document the evolution of mosaicism in the same time.…”

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confidence: 91%

A late onset sickle cell disease reveals a mosaic segmental uniparental isodisomy of chromosome 11p15

Vinatier¹,

Martín²,

Costa³

et al. 2015

Blood Cells, Molecules, and Diseases

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Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset -thalassemia major

Cited by 11 publications

References 20 publications

Strategies for basic laboratory diagnostics of the hemoglobinopathies in multi‐ethnic societies: interpretation of results and pitfalls

Strategies for basic laboratory diagnostics of the hemoglobinopathies in multi‐ethnic societies: interpretation of results and pitfalls

Diverse hematological phenotypes of β‐thalassemia carriers

A late onset sickle cell disease reveals a mosaic segmental uniparental isodisomy of chromosome 11p15

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