Laboratory diagnosis for thalassemia intermedia: Are we there yet?

Ansari, Saqib Hussain; Rashid, Nabil; Hanifa, Anny; Siddiqui, Saima; Kaleem, Bushra; Naz, Arshi; Perveen, Kousar; Hussain, Zeeshan; Ansari, Iqra; Jabbar, Qammar; Khan, Tahir Naeem; Nadeem, Muhammad Arif; Shamsi, Tahir

doi:10.1002/jcla.22647

Cited by 8 publications

(5 citation statements)

References 22 publications

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“…This fact has been investigated in various studies and proved that, serum ferritin level was significantly higher in patients who showed impairment of diastolic parameters. [7][8][9] Higher E/A ratio was the common echocardiographic evaluations in majority of the patients. 10,11…”

Section: Discussionmentioning

confidence: 99%

“…[2][3][4] Cardiac diseases caused with thalassemia can be categorized into two clinical categories such as iron overload complications and non-iron overload complications. [5][6][7] Pal et al 8 conducted a study on children with thallasemia major and divided then into two groups on basis of serum ferritin level as <2500 ng/dl and >2500 ng/dl. They found that cardiomegaly was found in 8 patients in those with ferritin level <2500 ng/dl and in 22 patients with level >2500 ng/dl.…”

Section: Introductionmentioning

confidence: 99%

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Cardiac Status of Patients with Thalassemia Major on Echocardiography

Soomro¹,

Qureshi²,

Bashir³

et al. 2022

PJMHS

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Background: Beta-thalassemia is a common genetic disorder in which red blood cell fail to perform normal function due to alterations in structure of red blood cells. Objective: To determine the cardiac status (mean left ventricular end diastolic diameter, left ventricular end systolic diameter and interventricular septal thickness) of patients with thalassemia major on echocardiography. Study Design: Cross-sectional study. Place and Duration of Study: Department of Pediatric Medicine, GMMMC Hospital, Sukkur from 2nd October 2020 to 1stApril 2021. Methodology: Ninety eight patients of both genders with age 2-18 years having thalassemia major. Thalassemia major were assessed and demographic variables including age, gender, family history of cardiac diseases, socio-economic status, other comorbid condition, duration since diagnosis of thalassemia was determined. All patients were also assessed for cardiac status using echocardiography. Results: Mean age of patients was 7.73±5.01 years. Mean duration since diagnosis of thalassemia was 6.12±4.80 years. There were 65 (66.33%) males and 33 (33.67%) female patients. There were 18 (18.37%) patients having low, 52 (53.06%) middle and 28 (28.57%) high status. Family history of cardiac disease was found in 15 (15.31%) patients. Mean left ventricular end diastolic diameter was 38.42±3.75 mm, left ventricular end systolic diameter was 24.45±2.40 mm and interventricular septal thickness was 6.23±1.45 mm. Conclusion: Left ventricular diastolic dysfunction (LVDD) occurs in all studied patients of thalassemia major. There was no systolic dysfunction and intraventricular septal thickening in thalassemia major patients. Keywords: Left ventricular end diastolic diameter, Left ventricular end systolic Diameter, Interventricular septal thickness, Thalassemia major, Echocardiography.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Cardiac Status of Patients with Thalassemia Major on Echocardiography

Soomro¹,

Qureshi²,

Bashir³

et al. 2022

PJMHS

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“…[50][51][52] Based on the knowledge of these genetic modifiers, laboratory diagnosis of thalassemia intermedia may also be proposed more precisely through population-based studies. 53 Most importantly, keeping in view the heterogeneity and molecular diversity of β-thalassemia, a single-scoring scheme cannot be applied universally. Population-based studies are needed to devise more specific and precise scoring systems.…”

Section: Discussionmentioning

confidence: 99%

“…Other related genetic modifiers/SNPs present on HBS1L-MYB (intergenic region), KLF10, and mutations present on α gene need to be analyzed on this cohort to further stratify and improve the scoring scheme; accordingly, HU response can be foreseen more precisely 50–52. Based on the knowledge of these genetic modifiers, laboratory diagnosis of thalassemia intermedia may also be proposed more precisely through population-based studies 53. Most importantly, keeping in view the heterogeneity and molecular diversity of β-thalassemia, a single-scoring scheme cannot be applied universally.…”

Section: Discussionmentioning

confidence: 99%

A Pragmatic Scoring Tool to Predict Hydroxyurea Response Among β-Thalassemia Major Patients in Pakistan

Ansari

Hussain

Zohaib

et al. 2021

Journal of Pediatric Hematology/Oncology

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Despite high prevalence and incidence of β-thalassemia in Pakistan, there is very limited work on the use of hydroxyurea (HU) in thalassemia patients in the country. This is the first insight regarding genetic profiling of BCL11A and HU responses in Pakistani β-thalassemia. It correlates single-nucleotide polymorphisms on BCL11A (rs4671393, rs766432) and HBG2 (XmnI), age at first transfusion, and β-globin mutations with HU response in β-thalassemia major (BTM). Of 272 patients treated with HU, 98 were complete responders, 55 partial responders, and 119 nonresponders. Our analysis shows that HU response was significantly associated with patients having IVSI-1 or CD 30 mutation (P < 0.001), age at first transfusion > 1 year (P < 0.001), and with the presence of XmnI polymorphism (P < 0.001). The single-nucleotide polymorphisms of BCL11A were more prevalent among responders, but could not show significant association with HU response (P > 0.05). Cumulative effect of all 5 predicting factors through simple binary scoring indicates that the likelihood of HU response increases with the number of primary and secondary genetic modifiers (P < 0.001). Predictors scoring is a pragmatic tool to foresee HU response in patients with BTM. The authors recommend a score of ≥ 2 for starting HU therapy in Pakistani patients with BTM.

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“…Всего насчитывается более 100 вариантов мутаций гена гемоглобина, которые могут привести к β-талассемии: в мире насчитывается 60-70 тыс. больных большой формой этой наследственной аномалии [1][2][3][4][5][6]. Зарубежные научные исследования, посвященные изучению механизмов развития талассемии, проводятся в основном в тех странах, где данная проблема является актуальной и имеется высокая распространенность, т. е.…”

Section: Introductionunclassified

Comparative characteristics of humoral immunity indicators and their relationship with chelation therapy in thalassemia

Rakhmanova

2022

Medicinskij sovet

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Introduction. Data on the increased susceptibility of patients with thalassemia to infections are of great interest to the study of various aspects of the immune status of patients.Aim. The aim of the study was to study the parameters of the humoral immunity and their relationship with chelation therapy in patients with thalassemia.Materials and methods. This study was carried out at the Republican Specialized Scientific and Practical Medical Center for Hematology from 2015 to 2020. The material of the study was the peripheral venous blood of patients with thalassemia. When determining the immunological status of patients with β-thalassemia, we examined 74 schoolchildren, aged 8–12 years. Statistical processing of clinical material was carried out using the statistical package of application programs STATISTICA 10.0.Results and discussion. The results of the study of the content of serum immunoglobulins in the blood of sick children showed a reduced synthesis of IgA (p < 0.001). At the same time, the level of IgM was significantly increased in patients with β-thalassemia, compared with the control (p < 0.001), which indicates the presence of acute inflammation in the body. Also, the results of our studies showed that there is a certain tendency to increase the level of IgG (11.2 ± 0.41 pg/ml in control versus 16.13 ± 0.58 pg/ml), there was a significant increase in the synthesis of this immunoglobulin (p < 0.001), this allows us to state about the autoimmune process. In the group of children with β-thalassemia, the level of C-reactive protein (CRP) was 4 times higher than the values of the control group (3.8 ± 0.1 ng/mg in the control versus 15.33 ± 0.17 ng/mg, p < 0.001). The level of lactoferrin in sick children was reduced by 4.2 times compared with the data of the control group. There is a dysregulation of acute phase protein factors – C-reactive protein and lactoferrin. β-thalassemia is characterized by a sharp increase in the level of pro-inflammatory cytokines – the level of IL-6 is increased by 2.9 times, and the level of IL-18 – by 8.7 times.Conclusion. The relationship between the indicators of the immune status and indicators of hemosiderosis was revealed, there is a significant difference in all the studied indicators, the use of chelation therapy contributes to positive dynamics.

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Laboratory diagnosis for thalassemia intermedia: Are we there yet?

Abstract: The presence of IVSI-5 homozygous with Xmn-1, IVSI-5 heterozygous with Xmn-1, Cd 30 homozygous with or without Xmn-1 and IVSI-1 homozygous or heterozygous either with or without Xmn-1 prove to be strong indicators towards diagnosis of thalassemia intermedia.

Cited by 8 publications

References 22 publications

Cardiac Status of Patients with Thalassemia Major on Echocardiography

Cardiac Status of Patients with Thalassemia Major on Echocardiography

A Pragmatic Scoring Tool to Predict Hydroxyurea Response Among β-Thalassemia Major Patients in Pakistan

Comparative characteristics of humoral immunity indicators and their relationship with chelation therapy in thalassemia

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