Case series of Fanconi anemia in Hevi pediatric hospital-Duhok


  • Adnan A.S. Al-Doski Department of Pathology, College of Medicine, University of Duhok, Duhok, Iraq



Fanconi anemia, Hevi pediatric hospital, Duhok city


Background and objective: Fanconi anemia is a rare inherited autosomal recessive disease characterized by chromosomal instability, progressive bone marrow failure, congenital malformations, and a high propensity of malignancies. Fanconi anemia is a genetically and phenotypically heterogeneous disorder defined by cellular hypersensitivity to DNA cross-linking agents. This study aimed to review retrospectively medical history, genetics, clinical course, blood test results, complications and social issues of Fanconi anemia patients.

Methods: All the patients with Fanconi anemia included in the study had been diagnosed between August 2008 and August 2016 in the Hevi pediatric teaching hospital, Duhok, Kurdistan-Iraq. The cases identified initially, which fulfilled clinical, peripheral blood and bone marrow examination (aspirate and biopsy) and confirmed by the cytogenic study as criteria of inherited hypoplastic anemia. Other causes of aplastic marrow were excluded.

Results: The study includes 30 Fanconi anemia cases,the median age at diagnosis was 7.5 years (range 1.5-15); At diagnosis the most blood parameters were reduced hemoglobin (63%), reduced platelets (57%) followed reduced leukocytes (53%) and 9 (30%) cases, all three peripheral blood count elements were reduced. Moderate aplastic anemiawas predominant, and common symptom (20 cases, 66.7%) washemorrhagic diathesis at presentation.Common physical abnormalities were skin pigmentation (70%), short stature (66.7%), thumb deformity (56.7%),and (53.3%) of the patients had small faces and eyes. Up to 33.3% of all Fanconi anemia patients exhibit none of the physical findings.

Conclusion: Fanconi anemia is a rare genetic disease in Duhok area;most patients were of moderate aplastic anemia, the bleeding tendency was the chief complaint of presentation.The diagnosis of Fanconi anemia in the early stage is important to select special management.


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How to Cite

Al-Doski, A. A. (2018). Case series of Fanconi anemia in Hevi pediatric hospital-Duhok. Zanco Journal of Medical Sciences (Zanco J Med Sci), 22(2), 208–216.



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