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Gene & Protein in Disease Bangladesh genetic disease database

Table 1. (Continued).

Genetic diseases Inheritance mode Diagnosis procedure Publishing year of Reference
the first case report
von Willebrand disease Autosomal dominant/ (1) Medical history collection 2019 [105]
recessive (2) Biochemical tests
(3) Endoscopy
(4) Bone marrow study
(5) von Willebrand factor antigen assay
Wilson’s disease Autosomal recessive (1) Medical history collection 2015 [106,107]
(2) Physical examination
(3) Limb examination
(4) Nerve examination
(5) Slit-lamp examination
(6) ECG
(7) CT scan
(8) MRI of the brain
Williams syndrome Autosomal dominant (1) Medical history collection 2014 [108]
(2) Physical examination
(3) ECG
(4) Chest X-ray
(5) Cardiac characterization
(6) STG aortography
(7) Angiography
(8) Blood test
Xeroderma pigmentosum Autosomal recessive (1) Medical history collection 2005 [109-111]
(2) Physical examination
(3) Biochemical test
(4) X-ray
(5) USG
(6) ECG
(7) MRI of the brain
(8) Skin biopsy
(9) Neurological examination

Like many other countries, the prevalence of genetic jumped to 0.18% of total deaths in 2018 [116] . Different
diseases is progressively increasing in the Bangladeshi studies have been performed to determine the prevalence
population. Out of all the genetic diseases, some are rate of autism spectrum disorder in Bangladesh. A national
ubiquitous in Bangladesh, such as thalassemia, Down survey in 2013 found that the frequency was 1.55/1000
syndrome, and autism spectrum disorder. The most and 0.68/1000 in different conditions, whereas another
common genetic disease in Bangladesh is beta-thalassemia, cross-sectional study in 2018 found that the prevalence was
and about 7% of the population are carriers [112] . Over 0.75/1000 in rural areas [117] . The Autistic Children’s Welfare
2000 children are born with thalassemia every year in Foundation presumed that the number of patients with
Bangladesh [113] . A recent nationwide carrier detection autism spectrum disorder in Bangladesh could be around
program showed that the overall ratio of beta-thalassemia 300,000, which indicates the significance of taking required
carrier is 2.24%, whereas the Hb-E trait carrier rate is 8.68%. steps nationwide to prevent unfortunate consequences [118] .
Besides, the study revealed another concerning factor by About 1.3 – 1.5 million cancer patients in Bangladesh and
screening participants with Hb-D trait, asymptomatic thousands of new patients are diagnosed yearly [119] . Genetic
Hb-E disease, suspected Hb-E, beta-thalassemia, hereditary changes cause most cancers, and nearly 5 – 10% of all
persistence of fetal hemoglobin, and alpha-thalassemia trait, cancers are inherited from parents [119] . Another common
who account for 11.8% carriers with abnormal hemoglobin genetic disease in this country is cystic fibrosis, caused by
genes [114] . Parkinson’s disease is another matter of concern mutations in the CF transmembrane conductance regulator
as the World Health Organization announced the death protein-coding gene. About one in 2500 babies is born with
rate of Parkinson’s disease, which is 0.07% of total deaths in cystic fibrosis in the United Kingdom, whereas the ratio is
[38]
Bangladesh in 2017. The number of deceased individuals 1:31,000 in Asia region . Although many genetic diseases
is increasing day by day [115] . Surprisingly, the death rate have already been reported in Bangladesh, their prevalence

Volume 1 Issue 1 (2022) 9 https://doi.org/10.36922/gpd.v1i1.78