{"id":22352,"date":"2022-08-31T11:01:46","date_gmt":"2022-08-31T11:01:46","guid":{"rendered":"https:\/\/catweb.ro\/babydetect\/?p=22352"},"modified":"2022-09-05T13:44:01","modified_gmt":"2022-09-05T13:44:01","slug":"alpha-thalassemia-hba1-and-hba2-genes","status":"publish","type":"post","link":"https:\/\/www.babydetect.be\/en\/alpha-thalassemia-hba1-and-hba2-genes\/","title":{"rendered":"Alpha-Thalassemia"},"content":{"rendered":"<p>HBA1 and HBA2 genes<\/p>\n<p><strong>OMIM#604131<\/strong> <a href=\"https:\/\/omim.org\/entry\/604131\">https:\/\/omim.org\/entry\/604131<\/a><\/p>\n<h4>1. The disease:<\/h4>\n<p>A rare inherited hemoglobinopathy characterized by impaired synthesis of two to all four alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.<\/p>\n<h4>2. The symptoms:<\/h4>\n<p>Disease expression varies according to the level of alpha-globin chain deficiency. <em>Lack of early signs or symptoms does not exclude the diagnosis. \u00a0<\/em><\/p>\n<ul>\n<li><em>Alpha-thalassemia 2<\/em> or <em>alpha<sup>+<\/sup>-thalassemia<\/em> causes mild anemia (often detected on routine blood tests), generally with no other symptoms.<\/li>\n<li><em>Alpha-thalassemia 1<\/em> or <em>alpha<sup>0<\/sup>-thalassemia<\/em> can present as the most severe form Hb Bart&#8217;s hydrops fetalis involves a severe deficiency in alpha-globin chains with serious developmental implications.<\/li>\n<li>A combination of the molecular basis of <em>alpha-thalassemia 2 and alpha-thalassemia 1<\/em> can cause Haemoglobin H disease (HbH), which is characterized by moderate hemolytic anemia with variable amounts of hemoglobin H along with occasionally severe splenomegaly, sometimes complicated by hypersplenism and necessity of transfusions.<\/li>\n<\/ul>\n<h4>3. Actions to take in case of early diagnosis:<\/h4>\n<ul>\n<li>Correlation with other exams as hematologic testing of red blood cell (RBC), peripheral blood smear, supravital stain to detect RBC inclusion bodies, and qualitative and quantitative haemoglobin analysis is important.<\/li>\n<li>Alpha-thalassemia is a lifelong disease requiring lifetime management and regular follow-up with a <strong>Haematology Center<\/strong>.<\/li>\n<li>Specific treatment is required and may include occasional or regular red blood cell transfusions, iron chelation, and other supportive measures.<\/li>\n<li>Neonates with <em>Hb Bart&#8217;s hydrops fetalis<\/em> usually have a severe presentation. In patients with haemoglobin H disease, the prognosis is usually good, but depends on complications and care.<\/li>\n<li>The pattern of inheritance is autosomal recessive and genetic counselling should be offered to at-risk family members.<\/li>\n<\/ul>\n<h4>4. For more information<strong>:<\/strong><\/h4>\n<p><strong>Orphanet<\/strong> : <a href=\"https:\/\/www.orpha.net\/consor\/cgi-bin\/Disease_Search.php?lng=EN&amp;data_id=50&amp;Disease_Disease_Search_diseaseGroup=alpha-thalassemia&amp;Disease_Disease_Search_diseaseType=Pat&amp;Disease(s)\/group%20of%20diseases=Alpha-thalassemia&amp;title=Alpha-thalassemia&amp;search=Disease_Search_Simple\">https:\/\/www.orpha.net\/consor\/cgi-bin\/Disease_Search.php?lng=EN&amp;data_id=50&amp;Disease_Disease_Search_diseaseGroup=alpha-thalassemia&amp;Disease_Disease_Search_diseaseType=Pat&amp;Disease(s)\/group%20of%20diseases=Alpha-thalassemia&amp;title=Alpha-thalassemia&amp;search=Disease_Search_Simple<\/a><\/p>\n<p><strong>Biblio :<\/strong><\/p>\n<ul>\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1435\/\">https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1435\/<\/a><\/li>\n<li>Munkongdee T, Chen P, Winichagoon P, Fucharoen S, Paiboonsukwong K. Update in Laboratory Diagnosis of Thalassemia. <em>Front Mol Biosci<\/em>. 2020;7:74. PMID:32671092.<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>HBA1 and HBA2 genes OMIM#604131 https:\/\/omim.org\/entry\/604131 1. The disease: A rare inherited hemoglobinopathy characterized by impaired synthesis of two to all four alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles. 2. The symptoms: Disease expression varies according to the level of alpha-globin chain deficiency. Lack of early signs&#8230;<\/p>\n","protected":false},"author":1,"featured_media":22348,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[38],"tags":[],"_links":{"self":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts\/22352"}],"collection":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/comments?post=22352"}],"version-history":[{"count":0,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts\/22352\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/media\/22348"}],"wp:attachment":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/media?parent=22352"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/categories?post=22352"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/tags?post=22352"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}