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Hemoglobinopathies and Thalassemias
Published in Harold R. Schumacher, William A. Rock, Sanford A. Stass, Handbook of Hematologic Pathology, 2019
β-Thalassemia Trait: No clinical or hematological abnormalities differentiate heterozygous β+- from β°-thalassemia. Splenomegaly may be present, but seldom proceeds to hyper-splenism. Marked depression of synthesis of one globin chain results in denaturation and precipitation of the complementary chains, contributing to the morphologic abnormality and hemolysis.
Hemoglobinopathies
Published in Victor A. Bernstam, Pocket Guide to GENE LEVEL DIAGNOSTICS in Clinical Practice, 2019
β-Thalassemia syndromes are caused by defective production of β-globin chains. Essentially two conditions — trait and disease — are recognized in β-thalassemia, compared to the four α-thalassemia states.
Economic and clinical burden of managing transfusion-dependent β-thalassemia in the United States
Published in Journal of Medical Economics, 2023
Chuka Udeze, Kristin A. Evans, Yoojung Yang, Timothy Lillehaugen, Janna Manjelievskaia, Urvi Mujumdar, Nanxin Li, Biree Andemariam
β-thalassemia is caused by any of >200 mutations in the β-globin gene (HBB)3,8. These mutations lead to reduced (β+) or absent (β0) β-globin chain synthesis and excessive unbound α-globin chain synthesis3,8. In β-thalassemia, unbound α-globin chains are unstable and contribute to the development of clinical complications, including ineffective erythropoiesis, iron overload, and anemia, as well as negative effects on growth, vascular function, organ systems (e.g. the cardiovascular, endocrine, hepatic, and skeletal systems), and mortality3,8. The clinical severity of the disease reflects many different factors, including the type of mutation in HBB, the extent of α-to-β-globin chain imbalance, ineffective erythropoiesis, anemia, and the number of required red blood cell transfusions (RBCTs)8,9.
An Expert Overview on Therapies in Non-Transfusion-Dependent Thalassemia: Classical to Cutting Edge in Treatment
Published in Hemoglobin, 2023
Mohammadreza Saeidnia, Pooria Fazeli, Arghavan Farzi, Maryam Atefy Nezhad, Mojtaba Shabani-Borujeni, Mehran Erfani, Gholamhossein Tamaddon, Mehran Karimi
β-Thalassemia intermedia (β-TI) was first described by Rietti-Greppi Micheli in 1955 [2]. The disease features milder clinical symptoms than β-thalassemia major (β-TM). The follow-up of patients with β-TI is usually in late childhood or even adulthood. Because the patients with β-TI display mild to intermediate levels of anemia (Hb levels: 7.0–10.0 g/dL) and generally do not require regular transfusions except in specific clinical conditions, such as pregnancy, infection, and surgery, this type of thalassemia is also referred to as non-transfusion-dependent thalassemia (NTDT). Therefore, the patient’s clinical status evaluation more important for controlling the disease’s detrimental effects, better apprehending the myriad aspects of its pathophysiology, and also could be profitable for extending patients’ longevity and quality of life [1,3–6].
Research Progress of Cell-Free Fetal DNA in Non-Invasive Prenatal Diagnosis of Thalassemia
Published in Hemoglobin, 2023
Dewen Liu, Chen Nong, Fengming Lai, Yulian Tang, Taizhong Wang
In order to achieve prenatal diagnosis without using a family proband, Grace et al. first proposed linking reading sequencing technique based on microfluidic technology, which can be directly used to construct parental haplotypes [29]. Currently, this technique has been applied to the NIPD of congenital adrenal hyperplasia (CAH) [30], thalassemia [31] and X-linked recessive disease–DMD [32]. Although this technique allows the direct construction of parental haplotypes, it is complex and has a longer experimental cycle than noninvasive delivery diagnosis based on probands [33]. Paula et al. proposed a targeted locus amplification (TLA) technique, which is distinct from targeted re-sequencing method, which can also be used to construct haplotypes without using pedigree probands [34]. Then Carlo et al. utilized this technique to construct the parental haplotype of β-thalassemia [35]. The researchers also proposed different sequencing techniques such as semiconductor sequencing [36] and nanopore sequencing [37] combined with RHDO for the diagnosis of β-thalassemia. Although the above methods can achieve the diagnosis of β-thalassemia, the experimental process is equally complex and difficult to apply in the clinical setting.