β-Thalassemia: Genotypes and Phenotypes

Hassan, Tamer; Badr, Mohamed; Safy, Usama El; Hesham, Mervat; Sherief, Laila M.; Zakaria, Marwa

doi:10.5772/64644

Cited by 7 publications

(14 citation statements)

References 31 publications

(43 reference statements)

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“…The comparing among the groups of the study concerning serum iron and serum ferritin level, the mean serum iron in patients was 262.1±75.48, while in control was 36.15 ± 15.16, the serum ferritin in patients was 2626.79 ± 690.17, while in control was 25.93 ± 18.24, there was a highly significant increase in serum iron and serum ferritin in patients more than the control. Table [3] showed the matching among the groups of the study concerning liver function test, the SGPT in the patients and control was matched without significant difference. In contrast, the SGOT shows a slightly significant increase in patients more than the control [p <0.05].…”

Section: Resultsmentioning

confidence: 99%

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Evaluation of Serum Insulin, Glucose and Liver Function in β-Thalassemia Major and Their Correlation with Iron Overload

Matar

Sakr

Alsehaimy

et al. 2020

International Journal of Medical Arts

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Background: Beta-thalassemia syndromes are a set of hereditary blood disorders marked by a deficiency of betaglobin chain synthesis, resultant in decrease hemoglobin in red blood cells [RBC], anemia, and a reduced RBC production Aim of the work: To evaluate glycometabolic and liver function in cases with β-thalassemia major and their correlation with serum iron and ferritin Patients and methods: This was a case-control study that was performed in the pediatric department of Al-Azher University Hospital in Damietta from June 2018 to June 2019. Fasting serum glucose, insulin, and liver enzymes were assessed for 48 cases and 40 ordinary controls. Serum iron and ferritin were recorded as an indicator of iron overload Results: Fasting serum insulin, alanine transaminase [ALT] levels, aspartate transaminase [AST] levels were significantly high in thalassemia major [TM] cases than in the control group [P<0.05 for all].As showed, the serum iron and serum ferritin showed a highly significant increase in the patients' group more than the control group. Conclusion:The kids with β-TM have a high glycemic disorders incidence rate, may be because of the insulin resistance due to the amplified iron burden.

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Section: Resultsmentioning

confidence: 99%

“…The beta form of thalassemia is particularly prevalent among the Mediterranean peoples, and this geographical association is responsible for its naming. Beta Thalassemia is the most common chronic hemolytic anemia in Egypt [85.1%], with a carrier rate of approximately 10% [3] .…”

Section: Introductionmentioning

confidence: 99%

Evaluation of Serum Insulin, Glucose and Liver Function in β-Thalassemia Major and Their Correlation with Iron Overload

Matar

Sakr

Alsehaimy

et al. 2020

International Journal of Medical Arts

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“…Beta-thalassemia is a group of hereditary blood disorders characterized by the reduction or absence in the synthesis of the β chains of hemoglobin, resulting in variable phenotypes ranging from no clinical symptoms to severe anemia [ 1 ]. Patients with a severe form of β-thalassemia, such as β-thalassemia major (β-TM), present early in infancy with debilitating anemia that requires life-long regular transfusions for survival.…”

Section: Introductionmentioning

confidence: 99%

Renal Dysfunction in Pediatric Patients in Iraq With β-Thalassemia Major and Intermedia

Shaalan¹,

Hassan²,

Al-Shanoof³

et al. 2022

Cureus

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BackgroundWith optimum transfusion and chelation therapy, the survival of β-thalassemia patients and the incidence of various complications, including renal complications, have improved. ObjectivesTo investigate renal involvement in β-thalassemia patients using serum and urinary biochemical markers of glomerular and tubular dysfunction. MethodsThis case-control study included 69 β-thalassemia major (β-TM) patients, 23 β-thalassemia intermedia (β-TI) patients, and 100 healthy controls, all ranging from 1 to 16 years in age. Blood urea nitrogen (BUN), serum ferritin, serum and urinary levels of creatinine (Cr), uric acid (UA), calcium (Ca), phosphorus (Ph), magnesium (Mg), sodium (Na), and potassium (K), and the urinary albumin/creatinine ratio were evaluated. ResultsThe BUN level and the urinary Na/Cr, K/Cr, Ca/Cr, Mg/Cr, Ph/Cr, albumin/Cr, and UA/Cr ratios were significantly higher in the β-thalassemia patients than in the controls. In contrast, the serum Na, K, Ca, and Mg levels were significantly lower in the patients (P<0.05). An elevated urinary UA/Cr ratio was found in 61.9% of β-thalassemia patients, and an elevated urinary Ca/Cr, and urinary albumin/Cr ratio was found in 53.2%. An elevated Na/Cr ratio was found in 41.3%. The serum and urinary renal markers showed no significant differences between patients with β-TM and β-TI, except for microscopic hematuria, which was significantly higher in β-TI patients (34.8%) than in β-TM patients (13%), P>0.02. At an older age, high serum ferritin levels and deferoxamine therapy were associated with significant tubular and glomerular dysfunction in β-thalassemia patients. ConclusionsPediatric patients with β-thalassemia have significantly abnormal tubular and glomerular functions, necessitating early detection and monitoring to prevent/reverse renal function deterioration.

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“…In India, approximately 21,000 babies are born with Down's syndrome every year, with the majority of cases being identified postnatally Kava et al (2004) Beta (β) Epidemiology Of Down's Syndrome &Β-Thalassemia in India Thalassemia is a group of hereditary blood disorders caused by abnormal synthesis of β chains of haemoglobin Galanello and Origa (2010). β-thalassemia is an autosomal recessive disorder Hassan et al (2016).…”

Section: Introductionmentioning

confidence: 99%

EPIDEMIOLOGY OF DOWN’S SYNDROME & Β- THALASSEMIA IN INDIA

Gajbhiye¹,

Gaitonde²

2022

Int. J. Res. Granthaalayah

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Down’s syndrome and Beta (β) Thalassemia are commonly prevalent genetic diseases worldwide. Down’s syndrome is predominantly caused by an extra copy of chromosome 21 or trisomy 21. Maternal age above 35 years significantly increases the chances of a Down’s syndrome birth. In India, there are approximately 21,000 Down’s syndrome births every year. β-Thalassemia is a blood disorder caused by abnormal synthesis of the β chains of hemoglobin. India has over 35-45 million carriers of this disease. This is a survey-based study, which aims to understand the epidemiology of Down’s syndrome and Beta Thalassemia in the Indian population. This online survey was answered by 297 Indian or Indian origin adults. Both females and males were the respondents. Results of the study indicated that prevalence of Down’s syndrome is low in India while that of β-thalassemia is moderate. The correlation between the maternal and paternal ages at the time of birth of a Downs syndrome affected person was determined and the analyses showed that there was a positive correlation.

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β-Thalassemia: Genotypes and Phenotypes

Cited by 7 publications

References 31 publications

Evaluation of Serum Insulin, Glucose and Liver Function in β-Thalassemia Major and Their Correlation with Iron Overload

Evaluation of Serum Insulin, Glucose and Liver Function in β-Thalassemia Major and Their Correlation with Iron Overload

Renal Dysfunction in Pediatric Patients in Iraq With β-Thalassemia Major and Intermedia

EPIDEMIOLOGY OF DOWN’S SYNDROME & Β- THALASSEMIA IN INDIA

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