Skip to main content

Advertisement

Table 2 Diagnostic assessments and recorded results for the patient in chronological order

From: The additional genetic diagnosis of homozygous sickle cell disease in a patient with Waardenburg-Shah syndrome: a case report

Test Age (years) Results
Hemoglobin electrophoresis 7.8 SS disease
Complete blood count 8.0 Hb 7.5 g/dL, MCV 78 fl, retics 0.05 (proportion of red blood cells), WBC 24.0 × 109/L, platelets 250 × 109 /L
HbA2 range   3.7–4.3%
HbF range   1.2–4%
LE cells 8.7 Negative
Rectal biopsy 8.8 “Abundant muscle, numerous nerve fibers but no ganglion cells.”
Rectal biopsy (lowest value) 8.9 “No ganglion cells were seen. A few dubious nerve fibers were observed.”
Plain radiograph left hip 18.5 Unremarkable
Alpha globin gene number 26.9 Heterozygous deletional alpha thalassemia
Plain radiograph left hip 53.9 Sclerotic changes to head of femur and trochanteric area. Decreased joint space, osteophytic changes
Urea and electrolytes 53.9 K 5.8 mmol/L, creatinine 153 μmol/L (reference –males 80 μmol, females 68 μmol), Nai 134 mmol/L, Clj mmol/L, HCO3- 12 mmol/L
Complete blood count 54.0 Hb 6.0 g/dL, MCV 78 fl, retics 0.05 (proportion of red blood cells), WBC 12.0 × 109/L, platelets 262 × 109 /L. (Last SCC presentation 9 March 2012)
  1. Cl chloride, Hb hemoglobin concentration, HbA2 hemoglobin A2, HbF fetal hemoglobin, HCO3- bicarbonate, K potassium, LE lupus erythematosus, MCV mean cell volume, Na sodium, retics reticulocyte count, SS disease homozygous sickle cell disease, SCC Sickle Cell Center, WBC white cell count
  2. Values given as a range are not dated