Epidemiological, clinical and genetic characterization of aplastic anemia patients in Pakistan

Aplastic anemia (AA) is the most serious non-malignant blood disorder in Pakistan, ranked second in prevalence, after thalassemia. We investigated various epidemiological, clinical, and genetic factors of AA in a Pakistani cohort of 214 patients reporting at our hospital between June 2014 and Decemb...

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Published in:Annals of hematology 2019-02, Vol.98 (2), p.301-312
Main Authors: Akram, Zaineb, Ahmed, Parvez, Kajigaya, Sachiko, Satti, Tariq Mahmood, Satti, Humayoon Shafique, Chaudhary, Qamar un Nisa, Gutierrez-Rodrigues, Fernanda, Ibanez, Pilar F., Feng, Xingmin, Mahmood, Syed Kamran, Ghafoor, Tariq, Shahbaz, Nighat, Khan, Mehreen Ali, Sultan, Aneesa
Format: Article
Language:English
Subjects:
Anemia
Hematology
Medicine
Medicine & Public Health
Mutation
Oncology
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Summary:Aplastic anemia (AA) is the most serious non-malignant blood disorder in Pakistan, ranked second in prevalence, after thalassemia. We investigated various epidemiological, clinical, and genetic factors of AA in a Pakistani cohort of 214 patients reporting at our hospital between June 2014 and December 2015. A control group of 214 healthy subjects was included for comparison of epidemiological and clinical features. Epidemiological data revealed 2.75-fold higher frequency of AA among males. A single peak of disease onset was observed between ages 10 and 29 years followed by a steady decline. AA was strongly associated with lower socioeconomic profile, rural residence, and high rate of consanguineous marriages. Serum granulocyte colony-stimulating factor and thrombopoietin levels were significantly elevated in AA patients, compared to healthy controls ( P  
ISSN:0939-5555
1432-0584
DOI:10.1007/s00277-018-3542-z