Thalassemia intermedia in HbH-CS disease with compound heterozygosity for .BETA.-thalassemia: Challenges in hemoglobin analysis and clinical diagnosis

Tan, Ji; Kok, Juan Loong; Tan, Kong Wai; Wee, Yong Chui; George, Elizabeth

doi:10.1266/ggs.84.67

Cited by 9 publications

(7 citation statements)

References 17 publications

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“…Wainscoat et al showed that coinheritance of alpha thalassemia with homozygous beta thalassemia resulted in melioration of the beta thalassemia 19. Several studies have reported that clinical picture of the disease changed due to the interaction of α-thal deletions with homozygous β-thal mutations 20, 21…”

Section: Discussionmentioning

confidence: 99%

Alpha thalassemia deletions found in suspected cases of beta thalassemia major in Pakistani population

et al. 2017

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Background & Objective:Alpha (α) thalassemia is a hereditary disorder and is caused by deletions or mutations in globin genes. It is present in two clinically significant forms: hemoglobin Bart hydrops fetalis (Hb Bart) syndrome and hemoglobin H (HbH) disease. It is highly prevalent in South-East Asia or Mediterranean countries. The most common deletion reported in alpha thalassemia in Pakistani population was –α3.7 with a frequency of 8.3%, and the rare forms were –α4.2 (0.2%) and αααanti3.7 (0.9%). In our study, diagnosis of severe anemia cases without any α and β mutations or deletions were made by using extended alpha thalassemia deletions panel. The main objective of this study was to determine the prevalence and to study the spectra of alpha thalassemia gene deletions in beta thalassemia patients with the use of an extended panel including −−SEA, −−FIL, −−MED, −−20.5, −−THAI in addition to –α3.7, –α4.2 & -αααanti3.7.Methods:The samples were collected in ethylenediaminetetraacetic acid (EDTA) vacutainers. A total of 156 samples were analyzed for alpha thalassemia mutations. This cohort included 121 samples of beta thalassemia major, nine samples of beta thalassemia minor and 26 without any evidence of beta thalassemia mutations. DNA was extracted with Qiagen extraction kit. The primers for determination of different subsets of alpha thalassemia deletions were included. PCR amplification was performed and result interpreted on agarose gel.Results:Co-inheritance of alpha thalassemia (–α3.7, –α4.2) with homozygous beta thalassemia was detected in 30% cases of studied cohort (37 out of 121). The most common found was –α3.7 deletion (35/37) as single/double deletions or in combination with -αααanti3.7. In undiagnosed cases screened for beta thalassemia major, we found Mediterranean (–αMED) deletion at specifically 875 bp on agarose gel. This is distinctive finding in case of detecting –αMED instead of any other deletion from Pakistan.Conclusion:Alpha thalassemia deletions (–α3.7, –α4.2) are the common co-inherited deletions found in beta thalassemia major patients. On the basis of results, we propose an extended alpha thalassemia genetic mutation panel should be used for screening of children presenting with anemia with suspicion of haemoglobinopathy.

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Section: Discussionmentioning

confidence: 99%

Alpha thalassemia deletions found in suspected cases of beta thalassemia major in Pakistani population

et al. 2017

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“…The extent of anemia in thalassemia is determined by the ratio of α- to β-peptides. Coinheritance of α-thalassemia with β-thalassemia is mainly seen in patients with thalassemia intermedia [22,23]. Peptide analyses have shown that in patients coinheriting β-thalassemia major and HbH disease (– Med /–α 3.7 ), α-/non-α-globin chain biosynthesis was balanced and patients do not require blood transfusion, although they have marked anemia as hemoglobin is maintained at 85–95 g/l [24].…”

Section: Discussionmentioning

confidence: 99%

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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“…Reliance on Hb analysis alone may not be sufficiently accurate, especially in populations with a high frequency of different globin gene mutations 9. Patients with low mean corpuscular volume (MCV) and mean corpuscular haemoglobin (MCH) values, slightly reduced Hb levels (Hb <12 g/dL in women and Hb <14 g/dL in men) and normal HbA2 (1.5–3.5%) are suspected to be α-thalassaemia carriers.…”

Section: Introductionmentioning

confidence: 99%

Effects of α-thalassaemia mutations on the haematological parameters of β-thalassaemia carriers

et al. 2015

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Thalassemia intermedia in HbH-CS disease with compound heterozygosity for .BETA.-thalassemia: Challenges in hemoglobin analysis and clinical diagnosis

Cited by 9 publications

References 17 publications

Alpha thalassemia deletions found in suspected cases of beta thalassemia major in Pakistani population

Alpha thalassemia deletions found in suspected cases of beta thalassemia major in Pakistani population

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

Effects of α-thalassaemia mutations on the haematological parameters of β-thalassaemia carriers

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