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Beta Thalassemia
Published in Charles Theisler, Adjuvant Medical Care, 2023
Beta thalassemia is an inherited blood disorder that reduces the production of hemoglobin. Low levels of hemoglobin can lead to a lack of oxygen in many parts of the body. Beta thalassemia is classified into two types depending on the severity of symptoms: thalassemia major, also known as Cooley’s anemia, and thalassemia intermedia. Of the two types, thalassemia major is more severe.
Carrier Screening For Inherited Genetic Conditions
Published in Vincenzo Berghella, Obstetric Evidence Based Guidelines, 2022
Whitney Bender, Lorraine Dugoff
Beta-thalassemia is also caused by a mutation in the beta-globin gene on chromosome 11. This results in the inability to produce hemoglobin A. Individuals who are heterozygous for this mutation have beta-thalassemia minor. Depending upon the amount of normal beta-globin chain production, disease severity varies. Typically, asymptomatic mild anemia is present. Individuals who are homozygous for this mutation have beta-thalassemia major, or Cooley anemia. This disease is characterized by severe anemia with extramedullary hematopoiesis, delayed sexual development, and poor growth. Although elevated levels of Hb F are produced in an attempt to compensate for the absence of Hb A, this condition is universally fatal in late childhood unless treatment with periodic blood transfusions is initiated early. See Chap. 14 in Maternal-Fetal Medicine Evidence Based Guidelines.
Haematology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
The diagnosis depends on showing the presence of beta-thalassemia trait in the parents, along with either a raised haemoglobin A2 level or the existence of a coexisting haemoglobinopathy such as haemoglobin E. The blood film (Fig. 11.69) shows hypochromia and microcytosis, and haemoglobin electrophoresis of the patient shows mainly HbF with some haemoglobin A2. Confirmation is either with demonstration of the lack of globin chain synthesis by HPLC analysis or by molecular methods.
Whole exome sequencing and rare variant association study to identify genetic modifiers, KLF1 mutations, and a novel double mutation in Thai patients with hemoglobin E/beta-thalassemia
Published in Hematology, 2023
Chattree Hantaweepant, Bhoom Suktitipat, Manop Pithukpakorn, Yingyong Chinthammitr, Chanin Limwongse, Nawaporn Tansiri, Surasak Sawatnatee, Chayamon Takpradit, Wannaphorn Rotchanapanya, Saranya Pongudom, Kanyaporn Charoenprasert, Kittiphong Paiboonsukwong, Wichuda Thamprasert, Narumol Nolwachai, Wanlapa Rattanasawat, Busakorn Sae-Aeng, Nisachon Khorwanichakij, Putchong Saetow, Supawee Saengboon, Krittichat Kamjornpreecha, Wikanda Pholmoo, Boonyanuch Dujjawan, Noppadol Siritanaratkul
Hemoglobin (Hb) E/beta-thalassemia is caused by compound heterozygous mutations of the beta-globin gene. It has a higher prevalence than other beta-thalassemia diseases in Asia. The total number of patients in Thailand is estimated to be around 100,000 cases [1]. Patients with Hb E/beta-thalassemia have a wide spectrum of clinical severity from thalassemia intermedia (never or occasionally requiring blood transfusions) to thalassemia major (requiring regular blood transfusions). From previous studies, some factors can ameliorate the clinical severity by decreasing excessive alpha-globin including types of beta mutations (β+ or β++), coinheritance with alpha-thalassemia, and increasing gamma-globin synthesis [2]. Increased fetal hemoglobin (Hb F) production by single nucleotide polymorphisms (SNPs) at the HBS1L-MYB intergenic region or MYB (on chromosome 6q23), SNPs at BCL11A (on chromosome 2p16), SNPs at position 158 of the HBG2 promoter, or KLF1 mutations have been reported [3–6]. However, Nuinoon et al. found that types of beta mutation or a coinheritance with alpha mutations were associated with milder severity in only 12% of patients with Hb E/beta-thalassemia [7]. Moreover, common SNPs identified by genome-wide association study (GWAS) in three different loci including the beta-globin cluster, the HBS1L-MYB intergenic region, and the BCL11A were significantly associated with disease severity and Hb F levels in 27% of Thai patients [7].
Effect of different iron chelation regimens on bone mass in transfusion-dependent thalassemia patients
Published in Expert Review of Hematology, 2019
Mohammadreza Bordbar, Sezaneh Haghpanah, Omid Reza Zekavat, Forough Saki, Asghar Bazrafshan, Haleh Bozorgi
In this retrospective cohort study, we initially enrolled 743 TDT patients who were registered in a comprehensive thalassemia center in Dastgheib hospital, affiliated to Shiraz University of Medical Sciences, southern Iran, 2015–2017. Beta-thalassemia was confirmed with hemoglobin electrophoresis. All patients were transfusion-dependent from infancy and regularly transfused every 2–4 weeks. They were treated with various iron chelation treatment (ICT) regimens, which had started shortly after the first year of transfusion. The choice of iron chelation was determined by a single hematologist who was responsible for their treatment based on total body iron and cardiac status, patients’ compliance, tolerance, and adherence. Patients younger than 9-years old, non-transfusion-dependent thalassemia, bone marrow-transplanted patients, patients with active hepatitis B, C, or HIV infection, those with liver cirrhosis, and with incomplete clinical and/or laboratory data were excluded. Also, patients who were on treatment with any kind of bisphosphonate at the time of registration or within the past 12 months prior to the study were excluded. Therefore, 256 TDT patients met our criteria and were enrolled in this study. An informed written consent was obtained from those who accepted to take part in this study or their legal guardians. The study was approved by the local Ethics Committee of Shiraz University of Medical Sciences with the code number of 90-01-32-4107.
Anthropometric measurements in children having transfusion-dependent beta thalassemia
Published in Hematology, 2018
Bushra Moiz, Aysha Habib, Sobiya Sawani, Ahmed Raheem, Bilal Hasan, Manesh Gangwani
Despite major therapeutic progress in the last couple of decades growth failure still is a significant challenge in beta thalassemia major, often affecting the social adjustment and hence quality of life. Literature review revealed scarcity of data addressing this issue in thalassemia major from this part of the world. About two-third (65%) of our patients had short stature, and 42% of the patients were malnourished (BMI z-score <−2). An Iranian cross-sectional survey evaluated endocrine and metabolic dysfunction in 56 thalassemia patients; with 70% prevalence of stunted growth, mean serum ferritin level was 2888 ± 948 in this analysis [16]. In our study, h-SDS was inversely related to median ferritin levels. This relation was maintained in patients even when they were stratified based on their stunted growth. This fact has previously been documented in other studies as well [3,7]. Pemde et al. reported significant association (p < 0.000) of higher mean ferritin levels (3720 ± 1512 ng/ml vs. 2570 ± 1196 ng/ml) in patients with short-stature than in patients with normal height [7]. Similarly in another study, mean serum ferritin levels were better (2271.0 ng/ml) in patients with height over the third percentile than in patients with height lower than the third percentile (4567.0 ng/ml, p = 0.01) [12].