Significance of borderline hemoglobin A2 values in an Italian population with a high prevalence of  -thalassemia

Giambona, Antonino; Passarello, Cristina; Vinciguerra, Margherita; Muli, Rita Li; Teresi, Pietro; Anzà, Maurizio; Ruggeri, Gaetano; Renda, Disma; Maggio, Aurelio

doi:10.3324/haematol.12840

Cited by 65 publications

(46 citation statements)

References 22 publications

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“…The false negative samples were 8 of 30 (26,6%): 3 presented Hb b variants, co-eluting with HbA, (Hb Valletta, Hb Ernz and Hb City of Hope) that do not require prenatal diagnosis, one showed an undefined single nucleotide polymorphism (SNP) in the b-globin gene of ambiguous diagnostic significance, 8 2 samples presented, respectively, the α-globin gene triplication (ααα anti3.7…”

mentioning

confidence: 99%

Iron deficiency does not compromise the diagnosis of high HbA2 thalassemia trait

Passarello¹,

Giambona²,

Cannata³

et al. 2011

Haematologica

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confidence: 99%

Iron deficiency does not compromise the diagnosis of high HbA2 thalassemia trait

Passarello¹,

Giambona²,

Cannata³

et al. 2011

Haematologica

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“…We examined our sequence results for such a mutation, but IVS-II-654 C>T mutation was not present in the presented family. Giambona et al reported HBB:c.*+96T>C mutation in an Italian patient with a slightly elevated HbA 2 level [10]. Moreover, Boussiou et al observed the HBB:c.*+96T>C mutation in 7 Greek patients without any clinical symptoms [11].…”

Section: Resultsmentioning

confidence: 99%

The effect of HBB:c.+96TC (3UTR 1570 TC) on the mild b-thalassemia intermedia phenotype

Bilgen¹,

Canatan²,

Arıkan³

et al. 2011

Turk J Hematol

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Hemoglobin beta (HBB):c.*+96T>C substitution is very rare among β-globin gene mutations and its clinical significance remains to be clarified. The present study aimed to investigate the role of HBB:c.*+96T>C in the β-thalassemia intermedia phenotype in a Turkish family. The proband and parents were screened for β-globin gene mutations via direct sequencing. Hematological and physical examination results were recorded, and correlated according to genotype. The proband was compound heterozygous for Cod 8 (-AA) and HBB:c.*+96T>C, whereas his mother and father were heterozygous for Cod 8 (-AA) and HBB:c.*+96T>C, respectively. The father had almost normal hematological findings, whereas the mother had the typical β-thalassemia trait phenotype. The proband was diagnosed as mild β-thalassemia intermedia based on hepatosplenomegaly and hematological findings. To the best of our knowledge this is the first report of HBB:c.*+96T>C mutation in a Turkish family. HBB:c.* 96T>C substitution is a very rare, but clinically relevant β-globin gene mutation. Additionally, we think that if 1 spouse is a carrier for β-globin gene mutation the other should be screened for silent mutations, such as HBB:c.*+96T>C mutation of the β-globin gene, even if she/he does not have any clinical or hematological signs of the β-thalassemia trait phenotype. (Turk J Hematol 2011; 28: 219-22) Key words: Mild β-thalassemia intermedia, β-globin gene, HBB:c.*+96T>C

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“…Study done among borderline HbA2 samples in Italian populations showed that out of 95 positive samples, majority which was 25.3% showed mutation IVS 1 nt6 [11]. Study done among Chinese in Southern Asia showed that out of 165 samples of borderline HbA2 (3.3%-3.7%), 9.1% were positive for molecular defect in α-or β-globin gene.…”

Section: Discussionmentioning

confidence: 99%

“…Out of that, 410 samples were proceed with molecular test which showed that 22.9% were positive for molecular defect in β, α (or) δ-globin genes [11].…”

Section: Discussionmentioning

confidence: 99%

Red Cell Exchange Transfusion in Sickle Cell Anaemia Patients at the University College Hospital, Ibadan, Nigeria

Akingbola¹,

Fasola²,

AS³

et al. 2018

J Blood Disord Transfus

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Level of HbA2 more than 4% is the reliable parameter to identify β-thalassemia carrier. However, in some cases the level is not typically increased hence leading to diagnostic dilemma. Thus the objectives of this study were to evaluate the existence of β-thalassemia among borderline HbA2 sample. Out of 11,790 samples received for thalassemia screening, 405 (3.4%) were found to have borderline HbA2 level. Out of this, 117(28.9%) samples were selected by simple random sampling for PCR. Multiplex ARMS-PCR was used to detect β-globin gene mutation and multiplex gap PCR for α-globin genes deletion. The result revealed 36 (30.8%) had β-globin gene mutations, 8 (6.8%) had α-globin gene deletions and 1 (0.9%) had coexistence of α and β-globin gene defects.The commonest gene mutation detected were CD 19 (A-G), detected from 17 (45.9%) samples, followed by 9 (24.3%) with IVS 1-1 (G-A) mutation, 5 (13.5%) with Poly A mutation and 1 (2.7%) showed CAP +1 (A-C) mutation. Two samples (5.4%) showed mutations of Poly A and CD19, 2 (5.4%) showed mutation of IVS 1-1 and CD 19 while 1 (2.7%) showed IVS 1-5 and CD 19 mutations. This study showed 10 (27.0%) positive molecular results even though the HbA2 level was at only 3.0%. There was significant number of people with HbA2 between 3.0% and 3.9% and confirmed as thalassemia carriers by PCR. This data may suggest the level of HbA2 need to be revised to ensure the success of thalassemia screening programme in our population.

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Significance of borderline hemoglobin A2 values in an Italian population with a high prevalence of -thalassemia

Cited by 65 publications

References 22 publications

Iron deficiency does not compromise the diagnosis of high HbA2 thalassemia trait

Iron deficiency does not compromise the diagnosis of high HbA2 thalassemia trait

The effect of HBB:c.+96TC (3UTR 1570 TC) on the mild b-thalassemia intermedia phenotype

Red Cell Exchange Transfusion in Sickle Cell Anaemia Patients at the University College Hospital, Ibadan, Nigeria

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