Abstract
A group of inherited blood defects is known as Thalassemia is among the world's most prevalent hemoglobinopathies. Thalassemias are of two types such as Alpha and Beta Thalassemia. The cause of these defects is gene mutations leading to low levels and/or malfunctioning α and β globin proteins, respectively. In some cases, one of these proteins may be completely absent. α and β globin chains form a globin fold or pocket for heme (Fe++) attachment to carry oxygen. Genes for alpha and beta-globin proteins are present in the form of a cluster on chromosome 16 and 11, respectively. Different globin genes are used at different stages in the life course. During embryonic and fetal developmental stages, γ globin proteins partner with α globin and are later replaced by β globin protein. Globin chain imbalances result in hemolysis and impede erythropoiesis. Individuals showing mild symptoms include carriers of alpha thalassemia or the people bearing alpha or beta-thalassemia trait. Alpha thalassemia causes conditions like hemolytic anemia or fatal hydrops fetalis depending upon the severity of the disease. Beta thalassemia major results in hemolytic anemia, growth retardation, and skeletal aberrations in early childhood. Children affected by this disorder need regular blood transfusions throughout their lives. Patients that depend on blood transfusion usually develop iron overload that causes other complications in the body systems like renal or hepatic impairment therefore, thalassemias are now categorized as a syndrome. The only cure for Thalassemias would be a bone marrow transplant, or gene therapy with currently no significant success rate. A thorough understanding of the molecular basis of this syndrome may provide novel insights and ideas for its treatment, as scientists have still been unable to find a permanent cure for this deadly disease after more than 87 years since it is first described in 1925.
Highlights
A group of inherited blood defects is known as Thalassemia is among the world’s most prevalent hemoglobinopathies
Parents who are carriers of the cis deletion can have one out of four (25%) babies affected with alpha thalassemia major in every pregnancy; C- Hemoglobin H: when only one healthy alpha gene (-α/--) is inherited, it results in the massive production of hemoglobin H (Hb H) comprising tetramers of surplus beta chains
Alpha thalassemia with three-gene deletions causes the beta chains to accumulate in gatherings of four, creating unusual hemoglobin, called “hemoglobin H”
Summary
There are 2 copies of the alpha-globin gene in the human genome both located on chromosome 16, in a normal diploid cell, 4 copies of the gene are available, to produce the protein. Alpha (0) thalassemia – there are more than 20 different mutations described, resulting in the deletion of all the sets of α-globin genes. People having this deficiency are unable to synthesize normal α-globin and cannot make any normal functioning A, F, or A2 hemoglobin. Parents who are carriers of the cis deletion can have one out of four (25%) babies affected with alpha thalassemia major in every pregnancy; C- Hemoglobin H: when only one healthy alpha gene (-α/--) is inherited, it results in the massive production of hemoglobin H (Hb H) comprising tetramers of surplus beta chains. There are Four subtypes of alpha thalassemia are there ranging from moderate to severe in their effects on the patient’s body (Lee et al, 2010)
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