Hematology Case 44

Presented By Dr Mohammad Moharram

Released on 15-11-2020

Patient Data

19 year old male

Clinical Data

Patient previously diagnosed as sickle cell anemia.

History of repeated blood transfusion last time was 5 months ago.

Referred today from a private hospital as cas of SCA in crisis with 3 attacks of convulsions. Patient has generalised bodyache.

Patient is pale and slightly jaundiced.

Related Laboratory Results

  • CBC: ً

WBC: 11.1x103 /uL (Neutrophils: 5.7x103 /uL - Lymphocytes: 3.7x103 /uL - Monocytes:1.2x103 /uL - Eosinophils: 0.4 x103 /uL -Basophils: 0.1x103 /uL)

HGB: 9 g/dL - MCV: 63.6 fL - MCH: 22.3 pG - MCHC: 34%

Platelet: 607x103 /uL

  • Reticulocytic count %: 6.7% - Absolute reticulocytic count: 276 xx109 /uL

  • LDH: 270 u/L (R.R.: 98-192)

  • Total Bilirubin: 56 umol/L (R.R.: 5.1-20.5) - Direct Bilitubin: 8.5 umol/L (R.R.: 1.7-8.6)

  • S. Ferritin: 366 ng/mL (R.R.: 30-400) - S. Iron: 31 umol/L (R.R.: 8-32) - Total iron binding capacity: 82.2 umol/L (R.R.: 45-81)

  • Normal Renal Functions & Normal Liver Functions

Provisional Diagnosis

Sickle cell anemia in crisis

Case Picture(s) / Photo(s)

Comment / Findings

  • Peripheral Blood Smear:

Severe anemia with microcytic hypochromic RBCs. RBCs show marked anisocytosis and poikilocytosis. Target cells and sickle cells are frequently seen.

Reticulocytosis and Normoblastemia in association with elevated serum LDH & unconjugated bilirubin are features of active RBC hemolysis.

  • HGB HPLC:

HPLC show pattern of homozygous sickle cell disease with elevated HGB A2 (5.8%) & RBC microcytosis (with normal s.iron).

HGB F is elevated (6.8%)

Final Diagnosis

HPLC show pattern of homozygous sickle cell disease. However elevated HGB A2 & RBC microcytosis (with normal s.iron) suggest the diagnosis sickle cell disease βS β0 thalassaemia. To be confirmed by genetic counseling, family study and DNA analysis.

Please correlate with the following abdominal ultrasound, Iron profile, thyroid functions, Serum Folate, Serum Vitamin B12 and genetic study.

Additional Note

  • Suggested Redding:

((( Beyond the neonatal period, compound heterozygosity for βS and β0 thalassaemia can often be distinguished from βS homozygosity on HPLC by an increased percentage of haemoglobin A 2 , reported values being usually 4 – 5.6% for S β0 thalassaemia in comparison with 1.6 – 3.6% for SS. However it should be noted that there is some overlap in A2 percentages, particularly when co - inheritance of α thalassaemia raises the A2 percentage in βS homozygotes. There is also overlap in haemoglobin F levels, which are usually 5 – 15% in compound heterozygotes. If the red cell indices are normal, βS β0 thalassaemia can be excluded, but in patients with microcytosis the differential diagnosis is between βS βS with coexisting α thalassaemia and βS β0 thalassaemia. When a precise diagnosis is important, e.g. for genetic counselling, either family studies or DNA analysis can permit a distinction. Compound heterozygotes for βS and β+ thalassaemia are readily recognized by all techniques because of the presence of haemoglobin A))), Barbra J. Bain, et al, Variant Haemoglobins - A giude to identification, 2010, P 37.

Barbra J. Bain, et al, Dacie and Lewis - Practical Haematology, 2017, P293.