Assessment of children presenting with pancytopenia

Careful physical examination for dysmorphic features

Laboratory testing

Complete blood count

Serum aminotransferases

Viral serologies

HIV

Cytomegalovirus

Epstein-Barr virus

Hepatitis

Herpes simplex virus

Serum folate and vitamin B12 concentrations

Hemoglobin F levels

Cytogenetic studies on bone marrow*

Diepoxybutane screen for Fanconi anemia

Telomere length analysis of leukocyte subsets for dyskeratosis congenita

CD55/59 screen for paroxysmal nocturnal hemoglobinuria

Red blood cell phenotyping

HLA tissue typing

* FISH analysis is also performed by some providers, and is specifically recommended if conventional cytogenetic studies are limited because of inadequate metaphases in the bone marrow sample. The most frequent anomalies include trisomy 8, trisomy 6, 5q-, and anomalies of chromosome 7 (monosomy) and 13^[1].

Reference:

Rovo A, Tichelli A, Dufour C. Diagnosis of acquired aplastic anemia. Bone Marrow Transplantation 2013; 48:162.

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خرید پکیج

Assessment of children presenting with pancytopenia