Study of β-Thalassemia Mutations Using the Polymerase Chain Reaction-Amplification Refractory Mutation System and Direct DNA Sequencing Techniques in a Group of Egyptian Thalassemia Patients

Elgawhary, S; Elshafie, Shahira; Niazi, Manal; Aziz, Mona; El‐Beshlawy, Amal

doi:10.1080/03630260601057104

Cited by 28 publications

(12 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A recent study of 95 Egyptian betathalassemic cases illustrated that the three most common HBB mutations observed were at c.92+6 (36.3%), c.93-21 (25.8%), and c.92+1 (19.0%) [53], similar to the findings in other studies carried out on Egyptians [54][55][56] (Table 2). Moreover, the seven most frequent alleles in this study accounted for 84.2% of the observed thalassemic alleles in Egypt.…”

Section: Prevalence Of Beta-thalassemia Throughout the Middle Eastsupporting

confidence: 86%

Understanding Beta-Thalassemia with Focus on the Indian Subcontinent and the Middle East

Lahiry¹,

Al-Attar²,

Ra³

2008

TOHJ

View full text Add to dashboard Cite

Beta-thalassemia is one of the most prevalent autosomal disorders in the world. Mutations in the HBB gene underlie deficiencies in hemoglobin production, which can interfere with oxygen delivery resulting in wide range of disease severity. Although >535 mutations have been characterized in the HBB gene, beta-thalassemia is broadly classified into three groups, based on clinical severity: beta-thalassemia major, beta-thalassemia intermedia and beta-thalassemia minor. In this article we review: 1) the molecular and biochemical basis of beta-thalassemia; 2) clinical features; 3) the range of common molecular variants of beta-thalassemia in a subset of geographic regions within the Indian Subcontinent and the Middle East; 4) potential molecular diagnostics; and 5) current and future treatments. We suggest that efforts to more completely characterize the HBB mutation distribution in high-risk areas, such as the Indian Subcontinent and the Middle East, may lead to improved diagnosis with earlier and more effective intervention strategies.

show abstract

Section: Prevalence Of Beta-thalassemia Throughout the Middle Eastsupporting

confidence: 86%

Understanding Beta-Thalassemia with Focus on the Indian Subcontinent and the Middle East

Lahiry¹,

Al-Attar²,

Ra³

2008

TOHJ

View full text Add to dashboard Cite

show abstract

“…For RDB, a panel of primers and probes (n=22) using the β-globin strip assay was used (β-Globin Strip Assay MED kit, VIENNA LAB, REF. 4-130) [14].…”

Section: Methodsmentioning

confidence: 99%

Response to hydroxycarbamide in pediatric β-thalassemia intermedia: 8 years’ follow-up in Egypt

et al. 2014

Self Cite

View full text Add to dashboard Cite

Hydroxycarbamide (hydroxyurea or HU) has been shown to increase fetal hemoglobin (HbF) in patients with β-thalassemia intermedia (TI). The reported effects of HU in increasing the total hemoglobin (Hb) have been inconsistent. Studies of long-term therapy with HU in pediatric TI are rather uncommon. A retrospective observational study was carried out to evaluate the clinical responses to HU in Egyptian patients with β-TI. One hundred patients; children (n = 82, mean age 9.9 ± 4.1 years) and adults (n = 18) were studied for the mean Hb, HbF%, median serum ferritin, transfusion history, and splenic size before and after HU therapy (mean dose 20.0 ± 4.2 mg/kg/day, range 10-29 mg/kg/day) over a follow-up period 4 to 96 months (mean 35.4 ± 19.2 months). Molecular studies were also done for group of patients (n = 42). The overall response rate to HU was 79 %; 46 % were minor responders (with a reduction in transfusion rate by 50 % or more and/or an increase in their total hemoglobin level by 1-2 g/dl) and 33 % major responders (becoming transfusion-free and/or having an increase in total hemoglobin level by >2 g/dl). Mean hemoglobin increased among responders from 6.9 ± 0.9 g/dl to 8.3 ± 1.4 g/dl (p < 0.001). A significant rise in mean HbF (27.0 vs. 42.5 %; p < 0.011) and a decrease in median serum ferritin (800 vs. 644 ng/ml; p < 0.001) were also observed among responders (n = 45). Transfusions stopped in 44 % of pretreatment frequently transfused responders (n = 11/25). Splenic size decreased in 37 % of patients (n = 30/81). The predominant β-thalassemia mutation was 1-6 (T > C) in 32/42 (76 %) of studied patients; 28/32 were responders. Bivariate analysis showed no predictors of response as regards sex, pediatric and adult age, splenic status, or genotype. Hydroxycarbamide is a good therapeutic modality in the management of pediatric as in adult TI patients. It can minimize the need for blood transfusion, concomitant iron overload, and blood-born viral transmission especially in developing countries like Egypt.

show abstract

“…ElGawhary et al, (2007) reported that IVSI-6 is more frequent than IVSI-110, but their study covered Fayoum in Upper Egypt, Cairo, Alexandria and Tanta in Lower Egypt and the Nile Delta. The proportion of IVS-I-6 (T→C) was 36.30% and that of IVSI-110 (G→A) was 25.8% [20].…”

Section: β-Globin Gene Mutation By Allele Specific Pcrmentioning

confidence: 92%

Prevalence of Beta-Thalassemia Trait Among Students of the University College of Science and Technology-Palestine

Saqer¹,

Almasri²,

Almasri³

et al. 2016

AJLS

View full text Add to dashboard Cite

Abstract:Thalassemias are a group of recessively inherited genetic disorders mostly common in the Mediterranean, the equatorial and near equatorial regions of Africa and Asia. Large number of mutations cause abnormal globin gene expression and result in complete absence or reduction of globin chain synthesis which lead to thalassemia. β-thalassemia is the result of deficient or absent synthesis of β-globin chains, leading to excess α chains. This study was conducted in order to determine the prevalence of β-thalassemia trait among students of University College of Science and Technology (UCST) in Khan Younis, Gaza Strip-Palestine. Allele Specific PCR (ASPCR) was used to determine the intervening sequence IVSI-6 (T→C) and IVSI-110 (G→A) mutations. The study population consisted of 348 subjects recruited from the UCST (144 males: 41% and 204 females: 59%). Blood samples were collected in EDTA tube for CBC. Mentzer index was calculated for all samples. Blood film was done and stained using Giemza stain. DNA was isolated from 12 samples that had normal RBCs and low MCV and whose Mentzer index was >13. These samples were subjected to Allele Specific PCR in order to detect IVSI-6 (T→C) and IVSI-110 (G→A) mutations. The hemoglobin level in females was found to be about 20% less than the level recorded in males (11.40±1.01 vs 14.30±0.79 g/dl). The results also revealed that there were significant differences in all measured CBC parameters and indices between males and females except that for WBC, RBC, MCHC and PLT. IVSI-6 (T→C) mutation was detected only in two samples and both were heterozygous. IVSI-110 (G→A) mutation was not detected in this study. The present results showed that the case of β-thalassemia carrier have normal RBC, MCH, Hb and normal Mentzer index which could be missed in routine screening test.

show abstract

Study of β-Thalassemia Mutations Using the Polymerase Chain Reaction-Amplification Refractory Mutation System and Direct DNA Sequencing Techniques in a Group of Egyptian Thalassemia Patients

Cited by 28 publications

References 11 publications

Understanding Beta-Thalassemia with Focus on the Indian Subcontinent and the Middle East

Understanding Beta-Thalassemia with Focus on the Indian Subcontinent and the Middle East

Response to hydroxycarbamide in pediatric β-thalassemia intermedia: 8 years’ follow-up in Egypt

Prevalence of Beta-Thalassemia Trait Among Students of the University College of Science and Technology-Palestine

Contact Info

Product

Resources

About