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Haematological Disease
Published in John S. Axford, Chris A. O'Callaghan, Medicine for Finals and Beyond, 2023
Haematology is the study of blood and the diseases that affect it. It covers a broad spectrum of conditions from inherited disorders such as the haemoglobinopathy to aggressive malignancies such as acute leukaemia. Haematologists are heavily involved in the diagnostic process and in many countries have dual qualifications in clinical medicine and pathological sciences. With the advent of the ‘genomic era’, haematology has made huge strides forward in our understanding of disease processes and new therapeutic approaches. Haematology can seem impossibly complicated initially, but a basic understanding of how blood and its different components (cells and molecules) function and interact will give any inquisitive student the keys to a fascinating, varied specialty that is at the cutting edge of modern medicine and advanced therapeutics including gene therapy.
The Genetic Risk of a Couple Aiming to Conceive
Published in Carlos Simón, Carmen Rubio, Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
Joe Leigh Simpson, Svetlana Rechitsky, Anver Kuliev
The other carrier-screening program offered initially involved hemoglobinopathies (25). Sickle-cell disease is prevalent among individuals of African or African-American origin, 1 in 12 being heterozygotes for sickle-cell anemia (i.e., having the phenotype known as sickle-cell trait). Most affected individuals of African or African-American descent are the result of a missense mutation on codon 6 of the β-globin gene of hemoglobin, a single pathogenic variant resulting in a substitution of valine to glutamic acid in β-globin. A minority of cases from the Middle East have other hemoglobinopathy mutations. Irrespective of ethnic origin, heterozygosity can be identified through hemoglobin electrophoresis, assessing the motility of the protein gene product. Hemoglobin electrophoresis is also utilized for screening for carriers of β-thalassemias, hemoglobinopathies which are more frequent among Greeks, Italians (particularly Sicilians), Turks, Arabs, southern Iranians, and Asian Indians. Carrier detection is based on the presence of anemia which is not due to iron deficiency. The phenotype is further characterized by a mean corpuscular volume of less than 80 fL (microcytosis) and normal iron saturation levels. Hemoglobin electrophoresis shows decreased hemoglobin β but increased hemoglobin F as a characteristic for detecting β-thalassemia (26). DNA-based methods are now standard.
Haematological disorders
Published in Judy Bothamley, Maureen Boyle, Medical Conditions Affecting Pregnancy and Childbirth, 2020
Beta thalassaemia major is the homozygous form with the defective beta chain inherited from each parent. It is a major haemoglobinopathy, and those affected produce only little or no haemoglobin A. As a consequence, they require lifelong red cell transfusions in order to function.
Distribution characteristics and clinical phenotype analyses of hemoglobin variants in the Z region of Central Guangxi, Southern China
Published in Hematology, 2023
Lizhu Chen, Ning Tang, Jun Huang, Xiaobao Wei, Qingyan Zhong, Tizhen Yan, Shiqiang Luo
Hemoglobinopathy is a kind of hereditary blood disease caused by an abnormal structure or insufficient synthesis of the globin chain. Studies have shown that when the structure of the peptide chain changes, unstable hemoglobin variants can be generated, leading to gene mutation transcription or post-transcription metabolic abnormalities, and the expression of the affected globin chain will decreases, resulting in thalassemia manifestations [13]. In this study, 174 cases of group J, K, Q, G and E hemoglobin variants were found by hemoglobin electrophoresis in Guizhong, Southern China, and the prevalence of hemoglobinopathy was 0.73% (174/23709), higher than that of Meizhou, Guangdong Province (0.477%) [14], Shaokwan, Guangdong Province (0.46%) [15] and Fujian Province (0.26%) [16]. We identified 71 cases of mutations in the Z zone, including 24 cases of α-globin chain hemoglobin variants (Hb Cibeles, Hb J-Broussais, Hb G-Honolulu, Hb J-Wenchang-Wuming, Hb Ube-2, Hb Handsworth, Hb Q-Thailand), and 47 cases of β-globin chain hemoglobin variants (Hb G-Siriraj, Hb NewYork, Hb Anti-Lepore Liuzhou).
Prevalence of Hemoglobinopathies in Premarital Screening in the Province of Nigde, Turkey
Published in Hemoglobin, 2023
Gonul Seyda Seydel, Durmus Ayan, Tevfik Balci, Muhammet Bayraktar, Inayet Gunturk
Hemoglobinopathies represent an extremely significant public health issue also in Turkey. The prevalence of hemoglobinopathies varies considerably according to geographical regions. The prevalence rates reported for carriers of β, α thalassemia (α), and sickle cell gene were 2.1%, 0.25%, and 0.3%, respectively countrywide, while these rates are gradually increasing in the Mediterranean region [8,9]. The number of registered patients with hemoglobinopathies is 6000, whereas the number of carriers is 1.6 million. Overall, this situation imposes a huge economic, social, and medical burden on families, communities, and health systems [8]. Therefore, within the scope of the National Health Policy, a comprehensive National Hemoglobinopathy Control Program has been initiated in order to prevent hemoglobinopathies through public education, genetic counseling, premarital screening, population screening, and prenatal diagnosis. A premarital screening program is one of the most effective strategies applied to identify risky individuals or couples who are affected by hemoglobinopathies [10–12]. Considering the prevalence of carriers, the diversity and heterogeneous distribution, the high mortality and morbidity rates, treatment costs, and the impact on the economy of hemoglobinopathies, premarital screening should be performed. As of 1 November 2018, the Hemoglobinopathy Control Program has become obligatory for individuals who are planning to get married in all provinces of Turkey, under the name the ‘Premarital Hemoglobinopathy Screening Program’ [8,13].
Overview of current progress and challenges in diagnosis, and management of pediatric sickle cell disease in Democratic Republic of the Congo
Published in Hematology, 2022
Emmanuel Tebandite Kasai, Jean Pierre Alworong’a Opara, Justin Ntokamunda Kadima, Masendu Kalenga, Salomon Batina Agasa, Roland Marini Djang’eing‘a, François Boemer
Hemoglobinopathy is defined as a blood pathology caused by genetic mutations that lead to qualitative and quantitative changes in structure and quantity of hemoglobin (Hb) chains [1]. To date, over a thousand variants of hemoglobin are described in the HbVar database. Not all these variants are clinically significant [2]. Globally, hemoglobinopathies fall into two main groups, including structural variants of hemoglobin (abnormal hemoglobins) and thalassemia syndromes (α-and β-thalassemia). Hemoglobin is a tetramer made up of two chains of α-globin and two chains of β-globin working together with heme to transport oxygen in the blood [1]. Normal adult hemoglobin (HbA) is referred to as αA2βA2 [1]. Variant hemoglobin is derived from genetic mutations in the structural genes of α-globin (HBA1 or HBA2) or β-globin (HBB) (exons).