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

被引：21

作者：

Akram, Zaineb ^{[1
,2
,3
]}

Ahmed, Parvez ^{[2
]}

Kajigaya, Sachiko ^{[1
]}

Satti, Tariq Mahmood ^{[2
]}

Satti, Humayoon Shafique ^{[2
]}

Chaudhary, Qamar Un Nisa ^{[2
]}

Gutierrez-Rodrigues, Fernanda ^{[1
]}

Ibanez, Pilar F. ^{[1
]}

Feng, Xingmin ^{[1
]}

Mahmood, Syed Kamran ^{[2
]}

Ghafoor, Tariq ^{[2
]}

Shahbaz, Nighat ^{[2
]}

Khan, Mehreen Ali ^{[2
]}

Sultan, Aneesa ^{[3
]}

机构：

[1] NHLBI, Cell Biol Sect, Hematol Branch, NIH, Bldg 10 CRC,Room 3E-5140,10 Ctr Dr, Bethesda, MD 20892 USA

[2] Combined Mil Hosp, Armed Forces Bone Marrow Transplant Ctr AFBMTC, Rawalpindi 46000, Pakistan

[3] Quaid I Azam Univ, Dept Biochem, Islamabad 44000, Pakistan

来源：

ANNALS OF HEMATOLOGY | 2019年 / 98卷 / 02期

关键词：

Aplastic anemia; TERT and TERC mutations; Cytokine; HLA; Epidemiology; PAROXYSMAL-NOCTURNAL HEMOGLOBINURIA; TELOMERASE REVERSE-TRANSCRIPTASE; NECROSIS-FACTOR-ALPHA; HLA CLASS-I; DYSKERATOSIS-CONGENITA; MUTATIONS; ALLELES; PLASMA; CELLS; INTERFERON;

D O I：

10.1007/s00277-018-3542-z

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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 29years 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<0.0001), while there was no statistical significance in other nine cytokine levels screened. Allele frequencies of DRB1*15 (56.8%) and DQB1*06 (70.3%) were predominantly high in AA patients. Ten mutations were found in TERT and TERC genes, including two novel mutations (Val526Ala and Val777Met) in exons 3 and 7 of TERT gene. Despite specific features of the AA cohort, this study suggests that epidemiologic and etiologic factors as well as host genetic predisposition exclusively or cooperatively trigger AA in Pakistan.

引用

页码：301 / 312

页数：12

共 51 条

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