Molecular Genetics and Metabolism Reports - Medical Science Assignment Help

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Received 1 January 2016 Received in revised form 5 April 2016 Accepted 5 April 2016 Available online 13 April 2016 β-Thalassemia is a genetic disease characterized by reduced or non-functionality of β-globin gene expression, which is caused due to a number of variations and indels (insertions and deletions). In this case study, we have reported a rare occurrence of compound heterozygosity of two different variants, namely, HBBc.92GNC and HBBc.92+5GNC in maternal amniotic fluid sample. Prenatal β-thalassemia mutation detection in fetal DNA was carried out using nucleotide sequencing method. After analysis, the father was found to be heterozygous for HBBc.92GNC (Codon 30 (GNC)) mutation which is β0 type and the mother was heterozygous for HBBc.92+5GNC (IVS I-5 (GNC)) mutation which is β+ type. When amniotic fluid sample was analyzed for βglobin gene (HBB), we found the occurrence of heterozygous allelic pattern for aforesaid mutations. This compound heterozygous state of fetus sample was considered as β+/β0 category of β thalassemia which was clinically and genotypically interpreted as β-thalassemia major. Regular blood transfusions are required for the survival of thalassemia major patients hence prenatal diagnosis is imperative for timely patient management. Prenatal diagnosis helps the parents to know the thalassemic status of the fetus and enables an early decision on the pregnancy. In the present study, we have identified compound heterozygosity for β-thalassemia in the fetus which portrays the importance of prenatal screening. © 2016 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). Keywords: β-Thalassemia Compound heterozygous β+/β0 mutation Amniotic fluid Nucleotide sequencing 1. Introduction Thalassemias, α- and β-thalassemias, are different forms of blood borne genetic disorders, which are inherited in an autosomal recessive pattern. β-Thalassemia is highly prevalent in Middle East, Mediterranean, Transcaucasus, Central Asia, Indian subcontinent, Africa and Far East [1]. β-Thalassemia is characterized by the defect in the synthesis of β-globin chains of hemoglobin tetramer. The mutations of HBB gene causes the abnormal formation of hemoglobin resulting in improper oxygen transportation and destruction of red blood cells. β-Thalassemia is caused by 21 important mutations out of 200 point mutations and indels published worldwide [2,3]. These mutations either partially or completely terminate the synthesis of β-globin chain which is classified as β+ and β0 type mutations respectively. Depending on severity of hematological and clinical conditions, β-thalassemia is classified into three types, namely, β-thalassemia minor (also called as carrier), β-thalassemia intermedia and β-thalassemia major.

People with β-thalassemia major require medical treatment including multiple blood transfusion regimens. Blood transfusion along with chelation therapy has resulted in improved life expectancy in thalassemia major patients. The clinical severity of β-thalassemia intermedia has ranged from asymptomatic carrier state to severe transfusion-dependent type. β-Thalassemia minor is clinically asymptomatic but can be characterized by specific hematological features. Around 60,000 new births are recorded to be affected by βthalassemia per year in the world [4]. Therefore, prenatal diagnosis of β-thalassemia is important for making an early decision about pregnancy. There are three possible genotypes leading to β-thalassemia major namely, β+β+, β0 β0 and β+β0 [5]. β+β+ type of thalassemia is classified as thalassemia major but it is comparatively less severe than other two types, because functionality of β-globin chain synthesis is not completely terminated. In β0 β0 type of thalassemia, there will be no production of hemoglobin, because β-globin chain synthesis is stopped completely [6]. Patients with β0 β0 type of β-thalassemia need RBC transfusion within two years of age. β+β0 type of thalassemia is more severe than β+β+ type but less than that of β0 β0 . Patients with β+β0 type of thalassemia possess two β-globin chains one with reduced and another with absence of functionality. Severity of β+β0 type of thalassemia varies from medium to high depending upon the mutations of the HBB gene [7].

The present case highlights the importance of Molecular Genetics and Metabolism Reports 7 (2016) 51–53 ? Corresponding author. E-mail address: prashanth.bagali@xcelrislabs.com (P.G. Bagali). Contents lists available at ScienceDirect Molecular Genetics and Metabolism Reports journal homepage: www.elsevier.com/locate/ymgmr http://dx.doi.org/10.1016/j.ymgmr.2016.04.002 2214-4269/© 2016 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). voluntary premarital screening to detect carriers of β-thalassemia and marriage between both carriers should be strongly discouraged. In the present study, both the parents were heterozygous for two different mutations, the father was having a β0 type mutation and the mother was having β+ type mutation whereas the amniotic fluid sample was detected heterozygous for both mutations leading to β+β0 type βthalassemia major.

2. Case report In the present case, we have reported a β-thalassemia affected Gujarati family (Gujarat, India), wherein the husband is 35 years old and the wife is 32 years old. Clinician has shared the genetic history of the family along with a copy of β-thalassemia reports. Based on hemoglobin electrophoresis method, it was confirmed that the couple was βthalassemia minor for different mutations. The father was carrying heterozygous HBBc.92GNC mutation and the mother was heterozygous for HBBc.92+5GNC mutation. The family consisted of two daughters, wherein the first daughter was thalassemia major and the second was thalassemia minor. T

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