Research in Molecular Medicine

en Co-inheritance of --MED double gene deletion and αααAnti3.7 triplication on α-globin gene in Mazandaran at 2016 زیست شناسی مولکولی Molecular biology گزارش مورد case report <p style="text-align: justify;">Alpha Thalassemia is one of the most prevalent disorders worldwide with a <a href="#_msocom_1" id="_anchor_1" name="_msoanchor_1">[T1]</a> high carrier rate in Mazandaran province (north of Iran). Carriers of --MED double gene deletion are at risk of having a child with hemoglobin  <a>haemoglobin</a><a href="#_msocom_2" id="_anchor_2" name="_msoanchor_2">[T2]</a>  H (HbH) disease, if they marry a silent carrier. Co-inheritance of αααAnti3.7 triplication that cannot be detected using hematological indices and β-globin gene mutations, in heterozygote states, leads to intermediate form of thalassemia. Using precise molecular analysis, the mutations that do not change the hematological parameters can be identified.  The diagnosis of these mutations is important in screening programs.   Multiplex Gap-PCR and reverse hybridization assay analysis were applied for the detection of mutations on α and β-globin genes in a patient with abnormal <a>hematological</a><a href="#_msocom_3" id="_anchor_3" name="_msoanchor_3">[T3]</a>  indices from Sari at 2016. A rare co-inheritance of --MED double gene deletion and αααAnti3.7 triplication was identified. The presented case can be at risk of having a child with HbH disease and thalassemia intermedia. So, the presented case shows the <a href="#_msocom_4" id="_anchor_4" name="_msoanchor_4">[T4]</a> importance of precise molecular analysis in premarital screening in order to prevent having a child with thalassemia.</p> <div> <hr align="left" size="1" width="33%" > <div> <div id="_com_1"><a name="_msocom_1"></a> <p dir="RTL"></p></div> </div> <div> <div id="_com_2"><a name="_msocom_2"></a> <p dir="RTL"></p></div> </div> </div> Alpha Thalassemia, αααanti3.7 triplication, --MED double gene deletion 44 47 http://rmm.mazums.ac.ir/browse.php?a_code=A-10-856-1&slc_lang=en&sid=1 Hossein Jalali Hossein.jalaliakerdi@gmail.com 10031947532846006608 10031947532846006608 No Thalassemia Research Center, Mazandaran University of Medical Sciences, Sari, Iran Mehrnoush Kosaryan mehrnoush.kosariyan@gmail.com 10031947532846006609 10031947532846006609 No Thalassemia Research Center, Mazandaran University of Medical Sciences, Sari, Iran Mohammad Reza Mahdavi Mahdavi899@gmail.com 10031947532846006610 10031947532846006610 Yes Thalassemia Research Center, Mazandaran University of Medical Sciences, Sari, Iran Mehrad Mahdavi mehrad.mahdavi@gmail.com 10031947532846006611 10031947532846006611 No Sina Mehr Research Center, Sari, Iran