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Beta Thalassemia
Published in Charles Theisler, Adjuvant Medical Care, 2023
The signs and symptoms of thalassemia major appear within the first two years of life. Children develop life-threatening hemolytic, microcytic, and hypochromic anemia‘ which can cause pale skin, weakness, fatigue, poor growth, and skeletal abnormalitiess. Individuals with this disorder are at an increased risk of developing abnormal blood clots.1
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.
Chorionic villus sampling
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Giovanni Monni, Maria Angelica Zoppi, Carolina Axiana
The purpose for prenatal diagnosis of genetic disorders is to determine the carrier status in order to help with genetic counseling of at-risk couples. Most carrier recognition and genetic counseling are retrospective, that is, after the birth of an affected child. Nonetheless, several programs related to carrier screening have been launched for populations known to be at risk for specific disorders, as is the case of beta-thalassemia in the Mediterranean area. Beta-thalassemia is the most common single-gene disorder among Italians, where 13% of the people on the Sardinia Island are healthy carriers. Ongoing programs of screening have proved quite effective, and they have resulted in a noticeable decline in the incidence of thalassemia major. Screening programs for Sardinians are based on carrier detection by employing hematologic methods, and genetic diagnoses can be made by identifying specific mutations through DNA analysis in carrier couples. In this way, prenatal diagnosis can be accomplished by mutation analysis on PCR-amplified DNA from chorionic villi (31). Because of advances in molecular techniques, the number of single-gene disorders offered for wide-based population screening will undoubtedly grow.
Unregulated supplement use causing insidious lead toxicity
Published in Baylor University Medical Center Proceedings, 2023
Grant Manh-tri Pham, Anuj Sharma
A 53-year-old woman of South Asian descent with known thalassemia minor presented to her primary care provider with fatigue, was diagnosed with thalassemia, and was referred to hematology/oncology. However, prior to the specialist appointment, she felt more fatigued and presented to the emergency department. Her hemoglobin was 7.4 g/dL. She was transfused two units of packed red blood cells and remained hemodynamically stable during her admission. She did not need any blood transfusions except for a prior left knee replacement. She was discharged and later seen by hematology/oncology. At the hematology appointment, additional laboratory tests were done, including a blood smear, low-density lipoprotein, haptoglobin, ferritin, hemoglobin electrophoresis, and hepatitis panel. The peripheral smear showed basophilic stippling, and lead levels were significantly elevated at 76 µg/dL. The patient was unsure of lead exposure. Since she was relatively asymptomatic, she was monitored for several months.
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
Thalassemia is a common hemolytic disease caused by abnormal globin synthesis due to mutations or deletions of HBA1, HBA2 or HBB genes, resulting in abnormal morphology and life cycle of red blood cells. The Globin website (https://globin.bx.psu.edu/cgi-bin/hbvar/counter) currently records more than 500 types of thalassemia mutations and deletions. Thalassemia is also a hereditary autosomal global disease; globally, an estimated 270 million people suffer from or carry abnormal hemoglobin and thalassemia [1]. Generally, the clinical symptoms of thalassemia carriers are mild, or even indistinguishable from those of healthy individuals. However, if both couples are carriers of thalassemia, then each time the fetus is born, there is a 1/4 chance of developing thalassemia major. There is no effective cure for thalassemia major except for bone marrow transplantation. Therefore, in areas with a high prevalence of thalassemia, prenatal diagnosis is the most effective means and method to reduce the number of newborns with thalassemia major. Invasive prenatal diagnosis is a common method for the diagnosis of thalassemia at present. Invasive procedures include amniocentesis, chorionic villi sampling, or umbilical cord blood sampling, all of which are traumatic and can cause vaginal bleeding, cervical abnormalities, and an increased risk of fetal infection in pregnant women [2–4], and ultrasound-assisted sampling is needed.
Prevalence and molecular characterization of common thalassemia among people of reproductive age in the border area of Guangxi-Yunnan-Guizhou province in Southwestern China
Published in Hematology, 2022
GuiDan Xu, ChunFang Wang, JunLi Wang, Min Lin, ZhengYi Chang, JuHua Liang, XiaoHao Chen, ShiMao Zhong, XueJuan Nong, WuJun Wei, YiBin Deng
Thalassemia, an autosomal-recessive inherited disorder, is characterized by reduced or absent synthesis of one or several globin peptide chains, which may result in hemolytic anemia [1]. The degree of anemia varies depending on imbalances in production of α- and β-like chains. Thalassemia minor may be asymptomatic or may present mild symptoms, whereas thalassemia intermedia is commonly heterogeneous with symptoms varying between severe transfusion-dependent thalassemia major to the mild thalassemia intermedia form. Babies with thalassemia major either die before birth or are born with serious complications that cause significant psychosocial and economic burden to their families and society [2,3]. Thalassemia major is refractory but preventable, with the only effective interventions involving precision genetic analysis on thalassemia intermediate, and preventing the birth of babies with thalassemia major by detection of carriers and prenatal genetic diagnosis [4,5].