Research in Molecular Medicine
Research in Molecular Medicine
Res Mol Med (RMM)
Medical Sciences
http://rmm.mazums.ac.ir
1
admin
2322-1348
2322-133X
10.29252/rmm
en
jalali
1395
11
1
gregorian
2017
2
1
5
1
online
1
fulltext
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>
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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