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

Giordano, Piero C.

doi:10.1111/ijlh.12037

Cited by 48 publications

(50 citation statements)

References 41 publications

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“…In our multi-ethnic societies, preselection based upon MCV and MCH is not advisable. Not to miss severe normocytic traits, separation and measurement of the Hb fractions should be performed together with blood count [15].…”

Section: Laboratory Diagnosis Of Thalass Emia S: H Ematological Te Stsmentioning

confidence: 99%

Laboratory diagnosis of thalassemia

Brancaleoni

Pierro

Motta

et al. 2016

Int J Lab Hematology

168

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Summary The thalassemias can be defined as α‐ or β‐thalassemias depending on the defective globin chain and on the underlying molecular defects. The recognition of carriers is possible by hematological tests. Both α‐ and β‐thalassemia carriers (heterozygotes) present with microcytic hypochromic parameters with or without mild anemia. Red cell indices and morphology followed by separation and measurement of Hb fractions are the basis for identification of carriers. In addition, iron status should be ascertained by ferritin or zinc protoporphyrin measurements and the iron/total iron‐binding capacity/saturation index. Mean corpuscular volume and mean corpuscular hemoglobin are markedly reduced (mean corpuscular volume: 60–70 fl; MCH: 19–23 pg) in β‐thalassemia carriers, whereas a slight to relevant reduction is usually observed in α‐carriers. HbA2 determination is the most decisive test for β‐carrier detection although it can be disturbed by the presence of δ‐thalassemia defects. In α‐thalassemia, HbA2 can be lower than normal and it assumes significant value when iron deficiency is excluded. Several algorithms have been introduced to discriminate from thalassemia carriers and subjects with iron‐deficient anemia; because the only discriminating parameter is the red cell counts, these formulas must be used consciously. Molecular analysis is not required to confirm the diagnosis of β‐carrier, but it is necessary to confirm the α‐thalassemia carrier status. The molecular diagnosis is essential to predict severe transfusion‐dependent and intermediate‐to‐mild non‐transfusion‐dependent cases. DNA analysis on chorionic villi is the approach for prenatal diagnosis and the methods are the same used for mutations detection, according to the laboratory facilities and expertise.

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Section: Laboratory Diagnosis Of Thalass Emia S: H Ematological Te Stsmentioning

confidence: 99%

Laboratory diagnosis of thalassemia

Brancaleoni

Pierro

Motta

et al. 2016

Int J Lab Hematology

168

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“…While TSD carriers can be identified retrospectively after the birth of the first affected child or prospectively before marriage or early in pregnancy at the enzymatic and/or DNA level, HBP carriers can be identified at any time with a simple, fast, and inexpensive Hb separation and measurement on high performance liquid chromatography (HPLC) or capillary electrophoresis (CE), the modern version of the classic Hb electrophoresis [10]. With an incidence of over 350,000 affected newborn p.y.…”

Section: Hemoglobinopathiesmentioning

confidence: 99%

Genetic Epidemiology and Preventive Healthcare in Multiethnic Societies: The Hemoglobinopathies

Giordano

Harteveld

Bakker

2014

IJERPH

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Healthy carriers of severe Hemoglobinopathies are usually asymptomatic and only efficiently detected through screening campaigns. Based upon epidemiological data, screenings have been offered for decades to populations of endemic Southern Europe for primary prevention of Thalassemia Major, while for many populations of the highly endemic African and Asian countries prevention for Sickle Cell Disease and Thalassemia Major is mainly unavailable. The massive migrations of the last decades have brought many healthy carriers of these diseases to live and reproduce in non-endemic immigration areas changing the epidemiological pattern of the local recessive diseases and bringing an urgent need for treatment and primary prevention in welfare countries. Nonetheless, no screening for an informed reproductive choice is actively offered by the healthcare systems of most of these welfare countries. As a consequence more children affected with severe Hemoglobinopathies are born today in the immigration countries of Northern Europe than in the endemic Southern European area. Following the Mediterranean example, some countries like the UK and The Netherlands have been offering early pregnancy carrier screening at different levels and/or in specific areas but more accessible measures need to be taken at the national level in all immigration countries. Identification of carriers using simple and inexpensive methods should be included in the Rhesus and infectious diseases screening which is offered early in pregnancy in most developed countries. This would allow identification of couples at risk in time for an informed choice and for prenatal diagnosis if required before the first affected child is born.

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“…HPLC is a method that allows rapid and precise detection of Hb variants, as well as sensitive quantitation of HbA2 [14]. When Hb S variant is present, percentage of Hb A2 and Hb F, family history, clinical data and hematological parameters help for distinguishing between homozygosis for Hb S and Hb S/β-thalassemia [15][16][17][18].…”

Section: Discussionmentioning

confidence: 99%

Compound Heterozygous Sickle Cell-β-Thalassemia: A Case Report from Upper Assam, India

Teli¹

2016

NJLM

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Sickle cell-β-thalassemia [Hb S/β-thalassemia] is a rare type of hemoglobinopathy. The clinical characteristics of Hb S/β-thalassemia are highly variable from a completely asymptomatic state to a severe disorder like homozygous sickle cell disease. In India IVS I-5 (G→C) is the most common β-thalassemia allele. In this study we presented a case of compound heterozygous Hb S/β-thalassemia in a 14-year-old female with complaints of anemia with weakness, joint pain and splenomegaly. The patient and her parents were diagnosed by HPLC and for detection of mutational pattern of β-thalassemia; ARMS-PCR and DNA sequencing were performed. The HPLC report suggested that the patient have Hb S/β-thalassemia and molecular diagnosis confirmed that the patient inherited IVS I-5 (G→C) β-thalassemia mutation.

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

Cited by 48 publications

References 41 publications

Laboratory diagnosis of thalassemia

Laboratory diagnosis of thalassemia

Genetic Epidemiology and Preventive Healthcare in Multiethnic Societies: The Hemoglobinopathies

Compound Heterozygous Sickle Cell-β-Thalassemia: A Case Report from Upper Assam, India

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