Mary, a 7-year-old, was admitted to the hospital after experiencing severe anemia following a respiratory infection. Her father has a history of RBC membrane abnormality and recently underwent a splenectomy to help alleviate the problem. Upon examination, it was revealed that Mary had hepatosplenomegaly and slight bruising on her forearms. A CBC was ordered, with the following results: HGB 10.8 g/dL
HCT 29.2%
WBC 11 × 10⁹/L
RBC 3.8 × 10¹²/L
MCV 77 fl
MCH 28 pg
MCHC 37%
PLT 275 × 10⁹/L
Peripheral smear: moderate polychromasia and spherocytes
Which of the following is most consistent with a presumptive diagnosis in this case?

Question

Quizplus · Accepted Answer

The patient presents with symptoms of anemia, hepatosplenomegaly, bruising, and a family history of RBC membrane abnormality. The CBC reveals moderate polychromasia and spherocytes, which are consistent with hereditary spherocytosis (HS), a genetic disorder that affects the structural proteins in RBCs and causes them to become spherical in shape, leading to hemolysis, anemia, and splenomegaly. PNH, DHS, and HE do not match the patient's symptoms or laboratory findings.

Mary, a 7-Year-Old, Was Admitted to the Hospital After Experiencing