A Novel Deletional β-Thalassemic Variant in an Ethnic Qatari Patient

Al-Obaidli, Aisha; Gérard, Nathalie; Zadjali, Shoaib Al; Fawzi, Z. O.; Pravin, Sahaya; Pathare, Anil; Krishnamoorthy, Rajagopal

doi:10.1080/03630260903081398

Cited by 3 publications

(4 citation statements)

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“…Short stature was defined as patient height < 2 standard deviations below the mean for age, gender, and ethnicity. Short stature was evaluated by assessment of patient height and plotted on international (WHO) adjusted growth charts 11. Body mass index (BMI) was calculated with the following formula: weight in Kg/ height in m 2 ,13…”

Section: Methodsmentioning

confidence: 99%

“…The frequency of β-thalassemia heterozygotes is estimated to be 2–3%. Al-Obaidli et al11 analyzed the molecular basis of β-thalassemia in Qatar. They found the most common mutant alleles were IVS-1–5 (G>C) and codon 8/9 (+G), representing 35.4% and 26.1% of the total, respectively.…”

Section: Introductionmentioning

confidence: 99%

“…Most of these two mutations are homozygous, probably because of the high rate of consanguinity. Recently, a novel β-thalassemia deletional variant allele in an ethnic Qatari patient was reported 11. The deletion spans exon 1, the entire intron 1 and the first two bases of exon 2 causing a frameshift and the premature appearance of a stop codon.…”

Section: Introductionmentioning

confidence: 99%

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FINAL HEIGHT AND ENDORINE COMPLICATIONS IN PATIENTS WITH Β-Thalasssemia INTERMEDIA: OUR EXPERIENCE IN NON-TRANSFUSED VERSUS INFREQUENTLY TRANSFUSED PATIENTS AND CORRELATIONS WITH LIVER IRON CONTENT

Sanctis³

et al. 2019

Mediterr J Hematol Infect Dis

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Abstract. Backgrond: β-thalassemia intermedia (TI) spans a wide spectrum of severity and carries higher morbidity than previously recognized, including extramedullary hematopoeisis, leg ulcers, gallstones, thrombosis, secondary heart failure, pulmonary hypertension, skeletal deformity, growth retardation and endocrine abnormalities, such as diabetes mellitus, hypothyroidism, osteoporosis, and hypogonadism. Objectives: To evaluate the final height and the endocrine complications encountered in young adult patients with TI followed at Hematology Section, Doha (Qatar) in relation to liver iron content in non-transfused versus infrequently transfused TI patients. Patients and Methods: This retrospective cohort study was performed on 28 young adults with TI who were randomly selected from the Hematology Clinic of the Hematology Section, National Centre for Cancer Care and Research, Hamad Medical Corporation of Doha (Qatar). Eligibility criteria for this retrospective analysis included TI patients diagnosed by complete blood count, hemoglobin electrophoresis and young adult age ( ≥ 18 years). Group 1 included 9 patients who did not receive any blood transfusion and Group 2 included 19 patients who infrequently received blood transfusion. Data recorded from charts included demographic characteristics (gender, date of birth, ethnicity), disease and treatment characteristics (e.g., transfusion frequency, history of chelation therapy, and splenectomy), auxological and pubertal data [growth percentiles and pubertal stages, and body mass index (BMI)], laboratory data and target organ complications (including endocrinopathies and liver disease). Iron overload was assessed by direct (liver iron content; LIC) and indirect methods (SF), and bone mass index (BMA) by dual-energy X-ray absorptiometry (DXA). Results: Short stature [Final Height (Ht) SDS < -2] occurred in 25% of patients with no difference between the two groups of patients. Insulin growth factor 1 (IGF-1) SDS was low in 35.7 % of patients with no statistical difference among the two groups. Impaired fasting blood glucose occurred in 17.8% of patients, diabetes mellitus in 25% and hypogonadotropic hypogonadism in 10.7% of them. Morning cortisol was low in one patient. No thyroid or hypoparathyroid abnormalities were detected in any patient. Liver iron content (LIC) > 15 mg/g dry weight and SF > 2,000 ng/mL were detected in 75% of the patients. The values resulted significantly higher in the transfused group (Group 2). High liver enzyme level (ALT) was detected in 42.8 % of patients and the values were significantly higher in the transfused group (Group 2).Total and fetal Hb was significantly higher in group 1 versus group 2. Osteopenia was diagnosed in 14.3% of patients. Females had significantly better final height SDS, higher IGF-1 SDS, lower LIC and fasting blood glucose level compared to males. Ht-SDS was correlated significantly with IGF-1 SDS. LIC was correlated significantly with SF level. ALT concentrations were correlated significantly with LIC and SF levels. Total and fetal Hb did not correlate significantly with Ht-SDS or IGF-1 level. Conclusions: A significant number of TI patients have high LIC, short stature and endocrine disorders. Patients who require occasional transfusions have more liver iron overload and higher hepatic dysfunction. Females appear to attain better final adult height and have higher IGF1- SDS versus males. Our data emphasize the need for long term surveillance for identification of organ-specific risk factors and early disease manifestations.We also recommend a close monitoring of endocrine and other complications, according to the international guidelines.

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Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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FINAL HEIGHT AND ENDORINE COMPLICATIONS IN PATIENTS WITH Β-Thalasssemia INTERMEDIA: OUR EXPERIENCE IN NON-TRANSFUSED VERSUS INFREQUENTLY TRANSFUSED PATIENTS AND CORRELATIONS WITH LIVER IRON CONTENT

Sanctis³

et al. 2019

Mediterr J Hematol Infect Dis

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“…The presence of this novel deletional allele in a compound heterozygous state with a non-deletional allele is alarming in a diagnostic setting, especially in the absence of family studies. 39 …”

Section: Most Common β-Thalassemia Variants In the Mediterranean Beltmentioning

confidence: 99%

β-thalassemia distribution in the old world: a historical standpoint of an ancient disease

Sanctis¹,

Kattamis

Canatan³

et al. 2017

Mediterr J Hematol Infect Dis

256

158

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BackgroundHaemoglobinopathies constitute the commonest recessive monogenic disorders worldwide, and the treatment of affected individuals presents a substantial global disease burden. β-thalassaemia is characterised by the reduced synthesis (β+) or absence (βo) of the β-globin chains in the HbA molecule, resulting in accumulation of excess unbound α-globin chains that precipitate in erythroid precursors in the bone marrow and in the mature erythrocytes, leading to ineffective erythropoiesis and peripheral haemolysis. Approximately 1.5% of the global population are heterozygotes (carriers) of the β-thalassemias; there is a high incidence in populations from the Mediterranean basin, throughout the Middle East, the Indian subcontinent, Southeast Asia, and Melanesia to the Pacific Islands.AimThe principal aim of this paper is to review, from a historical standpoint, our knowledge about an ancient disease, the β-thalassemias, and in particular, when, how and in what way β-thalassemia spread worldwide to reach such high incidences in certain populations.ResultsMutations involving the β-globin gene are the most common cause of genetic disorders in humans. To date, more than 350 β-thalassaemia mutations have been reported. Considering the current distribution of β- thalassemia, the wide diversity of mutations and the small number of specific mutations in individual populations, it seems unlikely that β-thalassemia originated in a single place and time.ConclusionsVarious processes are known to determine the frequency of genetic disease in human populations. However, it is almost impossible to decide to what extent each process is responsible for the presence of a particular genetic disease. The wide spectrum of β-thalassemia mutations could well be explained by looking at their geographical distribution, the history of malaria, wars, invasions, mass migrations, consanguinity, and settlements. An analysis of the distribution of the molecular spectrum of haemoglobinopathies allows for the development and improvement of diagnostic tests and management of these disorders.

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The spectrum of beta-thalassemia mutations in the 22 Arab countries: a systematic review

Khan

Al-Sulaiti

Younes

et al. 2020

Expert Review of Hematology

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A Novel Deletional β-Thalassemic Variant in an Ethnic Qatari Patient

Cited by 3 publications

References 6 publications

FINAL HEIGHT AND ENDORINE COMPLICATIONS IN PATIENTS WITH Β-Thalasssemia INTERMEDIA: OUR EXPERIENCE IN NON-TRANSFUSED VERSUS INFREQUENTLY TRANSFUSED PATIENTS AND CORRELATIONS WITH LIVER IRON CONTENT

FINAL HEIGHT AND ENDORINE COMPLICATIONS IN PATIENTS WITH Β-Thalasssemia INTERMEDIA: OUR EXPERIENCE IN NON-TRANSFUSED VERSUS INFREQUENTLY TRANSFUSED PATIENTS AND CORRELATIONS WITH LIVER IRON CONTENT

β-thalassemia distribution in the old world: a historical standpoint of an ancient disease

The spectrum of beta-thalassemia mutations in the 22 Arab countries: a systematic review

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