Clinical trial NCT05370677: The Prevelence of IVS 1-6 (T-C) [HBB:c.92 +6 T-C] Gene Mutation in Suspected Cases of β Thalassemia in Assiut University Hospitals
Official title: The Prevelence of IVS 1-6 (T-C) [HBB:c.92 +6 T-C] Gene Mutation in Suspected Cases of β Thalassemia in Assiut University Hospitals
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Beta-Thalassemia
Lead sponsor: Assiut University
Sponsor class: OTHER
First posted: 2022-05-11
Enrollment: 141
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: around 141 (suspected \& clinically diagnosed cases).

Brief summary: 1. - To design an amplification-refractory mutation system (ARMS) for the DNA diagnosis of the IVS I-6 (T\>C) mutation.
2. - To detect the prevelence of the mutation among Assiut University Hospital patients.
3. - Phenotype/genotype correlation of the mutation.

Detailed description: • The β-thalassaemias result from 300 gene mutations ( https://globin.bx.psu.edu ).

All of the mutations are regionally specific and the spectrum of mutations has now been determined for most at-risk populations(Old JM, 2007).

* The strategy for identifying β-thalassaemia mutations is usually based on the knowledge of the common and rare mutations in the ethnic group of the individual being screened.(Old JM, 2007) .
* In Mediterranean it represnts 8-15%
* In Africa it represnts 3.5%
* In Egyptians it represnts 13.6% ( https://globin.bx.psu.edu ).
* The β globin gene mutation IVS I-6(T\>C) is the First most common β globin gene mutation among Egyptians
* (36.3%) according to ( Somaia El-Gawhary et al 2007 )
* (27.66%) ( Ammar D. Elmezayen et al 2015 )
* and the second most common mutation
* (40%) according to ( El-shanshory M et al 2014)
* (21.25%) ( Elhalfawy et al 2017) The molecular characterization of the globin gene mutation is necessary for definite diagnosis, genetic counseling, and to offer prenatal diagnosis. The amplification-refractory mutation system (ARMS) is a simple method for detecting any mutation involving single base changes or small deletions.
* the DNA is analysed after amplification by PCR for Detection of point mutation IVS I-6(T\>C) by Using primer pairs that only amplify individual alleles \[ARMS\] .

Eligibility criteria: Inclusion Criteria:

* : β thalassemia (suspected \& clinically diagnosed cases).

Exclusion Criteria:

* : Iron deficiency anaemia, anaemia of chronic disease, types of haemolytic anaemias other than thalassemia, other types of thalassemia and Hb variants

Primary outcomes:
measure: using ARMS to detect the mutation
timeFrame: 2 years
Secondary outcomes:
measure: teaching purpose
timeFrame: 2 years
Other outcomes:
Locations:
Study officials:
References:
citation: Origa R. beta-Thalassemia. Genet Med. 2017 Jun;19(6):609-619. doi: 10.1038/gim.2016.173. Epub 2016 Nov 3.
citation: Galanello R, Origa R. Beta-thalassemia. Orphanet J Rare Dis. 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11.
citation: Kumar R, Sagar C, Sharma D, Kishor P. beta-globin genes: mutation hot-spots in the global thalassemia belt. Hemoglobin. 2015;39(1):1-8. doi: 10.3109/03630269.2014.985831. Epub 2014 Dec 19.
citation: Hashmi G, Qidwai A, Fernandez K, Seul M. Enabling routine beta-thalassemia Prevention and Patient Management by scalable, combined Thalassemia and Hemochromatosis Mutation Analysis. BMC Med Genet. 2020 May 15;21(1):108. doi: 10.1186/s12881-020-01017-x.