Hemoglobin H (Hb H) disease in Canada: Molecular diagnosis and review of 116 cases

Waye, John S.; Patterson, Michael M.; Walker, L. R.; Carção, Manuel; Olivieri, Nancy F.; Chui, David H.K.

doi:10.1002/ajh.1142

Cited by 27 publications

(16 citation statements)

References 33 publications

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“…The incidence of genetic subtypes of HbH disease varies between different ethnic groups. Generally, the nondeletional genotype is less frequent in South Thailand, Cyprus, Sardinia and Canada (24–30, 15, 14, and 12%, respectively) [8,9,10,11,12]. Our results are different from those of these regions and are higher than those in Hong Kong, but are similar to those of Northern Thailand [13].…”

Section: Discussioncontrasting

confidence: 56%

“…Our results are different from those of these regions and are higher than those in Hong Kong, but are similar to those of Northern Thailand [13]. The Thai type of α⁰-thalassemia is seldom seen in Guangxi patients (one in 357 patients, 0.28%) and is seen in 1% of HbH patients in Northern Thailand [13] and in about 2% of Southeast Asian immigrants with HbH disease who were living in Canada [11] and California [14]. HbH-CS was the most common type we observed, which is similar to that seen in Northern Thailand (53%) [13].…”

Section: Discussioncontrasting

confidence: 52%

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Hemoglobin H Disease in Guangxi Province, Southern China: Clinical Review of 357 Patients

et al. 2010

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The clinical characteristics of 357 patients with hemoglobin H (HbH) disease from the Guangxi province of Southern China were studied. One hundred and ninety-one (53.3%) patients were diagnosed with HbH-Constant Spring, 19 were diagnosed with HbH Westmead. Ten patients were shown to have coinherited HbH-Constant Spring/QS with a β-thalassemia mutation. Coinheritance of the β-thalassemia gene does not alleviate anemia (8.2 ± 2.3 vs. 7.6 ± 1.7 g/dl, p = 0.276), or influence age at diagnosis (20.2 ± 19.6 vs. 12.9 ± 11.0 years, p = 0.276). Ferritin levels were significantly higher in the group of patients with the nondeletional form of the disease (475 ± 719 vs. 249 ± 264 ng/ml, p = 0.005).

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Section: Discussioncontrasting

confidence: 56%

Section: Discussioncontrasting

confidence: 52%

Hemoglobin H Disease in Guangxi Province, Southern China: Clinical Review of 357 Patients

et al. 2010

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“…We did not detect any ÀÀ SEA deletions, although the cis-deletion has been reported in high frequency in the Southeast Asian region [9]. A previous study from South India also did not find a high frequency of this deletion [10].…”

Section: Discussioncontrasting

confidence: 37%

High frequency of deletional α‐thalassemia in β‐thalassemia trait: Implications for genetic counseling

et al. 2004

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Thalassemias are a group of genetic hemolytic disorders with varying phenotypes. In this study, the frequency of a globin gene deletions was studied in the b-thalassemia trait, the mildest form of the disorder. Eleven out of 33 (33%) individuals were positive for a -3.7 kb deletions. None of the subjects was positive for the Southeast Asian deletion. Such a high frequency for a deletions has not been reported earlier in thalassemia minor. Hematological parameters are compared, and implications of this finding for genetic counseling are discussed. Am.

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“…Unlike other populations in which the Hb H disease is much more frequently due to deletions than nondeletion mutations [18, 19, 20, 21, 22, 23, 24], as shown in table 1, the Hb H disease in this group of the Thai population most commonly (35 of 52 cases, 67.3%) results from the combination of α-thalassemia 1 (SEA) and Hb CS (–– SEA /α CS α) and less commonly (14 of 52 cases, 26.9%) from the interaction of α-thalassemia 1 (SEA) and deletional α-thalassemia 2 (–– SEA /–α). Interaction of α-thalassemia 1 (SEA) with other nondeletional forms of α-thalassemia 2, the Hb Paksé (–– SEA /α PS α), was observed in 3 remaining cases (5.8%).…”

Section: Discussionmentioning

confidence: 99%

The Diverse Molecular Basis and Hematological Features of Hb H and AEBart’s Diseases in Northeast Thailand

et al. 2004

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We defined the molecular basis and correlated the hematological phenotypes with the globin genotypes in 52 patients with Hb H disease and 29 patients with AEBart’s disease of northeast Thailand. Among the former group, the most prevalent molecular defect was found to be the interaction of α-thalassemia 1 (SEA type) with the Hb Constant Spring (Hb CS; 35 of 52 patients), followed by the deletion of three α-globin genes with the SEA type α-thalassemia 1 and the 3.7- or 4.2-kb deletion of α-thalassemia 2 (14 of 52 patients) and the interaction of the SEA α-thalassemia 1 with the Hb Paksé which was found in the remaining 3 patients. Among the 29 patients of the latter group, in 18 disease was caused by interactions of Hb E heterozygotes with the SEA α-thalassemia 1 and Hb CS. Interaction of Hb E heterozygotes with a deletional form of Hb H disease was detected in 7 patients and the Hb Paksé AEBart’s disease was found in another 3 patients. A remaining patient with an unusually severe form of AEBart’s disease with a lower Hb E level and observable Hb H was associated with a hitherto undescribed condition, the interaction of Hb E heterozygote with α-thalassemia 1 and an α2 codon 30 (GAG) deletion. Hematological characterization of the patients demonstrated that although disease in most of them was associated with thalassemia intermedia phenotypes, it was apparent that association with the nondeletional form of α-thalassemia 2 produced a more severe phenotype than that of the deletional one. Therefore, α-globin gene analysis of Hb H and AEBart’s disease patients would be useful for predicting the clinical outcome and improving genetic counseling.

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Hemoglobin H (Hb H) disease in Canada: Molecular diagnosis and review of 116 cases

Cited by 27 publications

References 33 publications

Hemoglobin H Disease in Guangxi Province, Southern China: Clinical Review of 357 Patients

Hemoglobin H Disease in Guangxi Province, Southern China: Clinical Review of 357 Patients

High frequency of deletional α‐thalassemia in β‐thalassemia trait: Implications for genetic counseling

The Diverse Molecular Basis and Hematological Features of Hb H and AEBart’s Diseases in Northeast Thailand

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