Question

John is a 4-year old boy who frequently complains of weakness, fatigue and dyspnea. His parents emigrated from Greece before the child’s birth. Both parents experience fatigue from time to time but never consulted a physician. The parents took the child to a pediatrician and the following lab tests results are below.

WBC: 11.4 x 10e9/L

RBC 1.7 x 10e12/L

Hb: 8.3 g/dL

Hct: 0.24 L/L

MCV: 69 fL

MCH: 21 pg

MCHC: 29.2 g/dL

PLT: 172 x10e9/L

The differential was normal, but the RBC morphology showed moderate poikilocytosis with polychromasia, many target cells and a few teardrop cells.

Based on the RBC indices, classify the anemia.
Named the dominant poikilocytotic cell in the smear
Name 2 other disorders with target cells
List 2 additional lab tests that would confirm the diagnosis and predict the results of each.
Additional tests were done to determine the cause of anemia. Results are below.

Hemoglobin Electrophoresis:

HbA: 66%

HbA2: 1%

HbF: 1%

Hb Bart’s: 8%

HbH: 24%

Iron panel:

Serum iron: 92 ug/dL

TIBC: 310 ug/dL

Serum ferritin: 88 ng/ml

Iron saturation: 33%

List which hemoglobins in hemoglobin electrophoresis are normal, decreased, increased?

Answer 1

John, a 4-year old, presents with symptoms and lab results indicative of microcytic anemia, specifically characterized by target cells and confirmed by a hemoglobin electrophoresis showing decreased HbA and increased Hb Bart's and HbH, which are characteristic of alpha thalassemia.

Step-by-step explanation:

John, a 4-year old boy with symptoms of weakness, fatigue, and dyspnea, has laboratory test results indicating anemia, specifically with an RBC count of 1.7 x 10e12/L, a low Hb of 8.3 g/dL, and an Hct of 0.24 L/L. His low MCV of 69 fL is indicative of microcytic anemia, a type of anemia with smaller-than-normal RBCs.

The dominant poikilocytotic cells shown in the smear are target cells. Two other disorders associated with target cells are liver disease and thalassemia. To confirm the diagnosis, two additional lab tests would be a reticulocyte count, which would likely show a low number of reticulocytes and a hemoglobin electrophoresis. Predicted results for hemoglobin electrophoresis in this case would show an increase in hemoglobin varieties not normally predominant. John's actual hemoglobin electrophoresis results demonstrated reduced HbA, with increased Hb Bart's and HbH, consistent with alpha thalassemia.

From the hemoglobin electrophoresis results provided, the normal hemoglobin HbA is decreased, HbA2 is normal, HbF is low, and both Hb Bart's and HbH are increased. The iron panel suggests that John does not have iron deficiency anemia, with a normal serum iron level of 92 ug/dL, TIBC of 310 ug/dL, serum ferritin of 88 ng/ml, and an iron saturation of 33%.