Hematology Case 60

Presented By Dr Mohammad Moharram

Released on 10-01-2023

Patient Data

20 year old female

Clinical Data

Patient came complaining from dizziness, easy fatigability, dyspnea on exercise, palpitation.

On examination: Palor, jaundice & hepatomegaly (6 cm BCM).

Patient informed to have thalassemia. She underwent splenectomy 3 years ago.

Last blood transfusion was 5 months ago. She is taking aspirin, deferasirox, folic acid & phenoxymethyl peneicillin.

Related Laboratory Results

  • CBC:

- ANC: 155 x103 /uL (Normoblastemia)

- WBC: 13.1x103 /uL

- HGB: 5 g/dL - MCV88: fL -MCH: 26pG - MCHC:30%

- Platelet: 904x103 /uL

  • Total bilirubin : 34.4 umol/L (R.R.: 5.1-20.5) - Direct bilirubin: 10 umol/L (R.R.: 1.7-8.6)

  • Normal RFT & LFT

  • LDH:585 u/L (R.R.: 98-192)

  • Serum Iron:55 umol/L (5-30.5) - Serum Ferritin: 1071 ng/mL (R.R.: 13-150)

Provisional Diagnosis

Thalassemia Major

Case Picture(s) / Photo(s)

Images Comment / Findings

  • Peripheral blood smear;

Marked anisopoikilocytosis. Target cells, ovalocytes, fragmented RBCs and other abnormal RBCs forms are seen. Polychromesia (Reticulocytosis) is seen.

Normoblastemia; 1080 / 100WBC

Blast cells : 1%

  • HPLC for HGB:

HGB F is the dominant HGB, Elevated HGB A2 (Mild), Remnant HGB A.

Pattern of compound heterozygous beta thalassemia.

Final Diagnosis

Compound Heterozygous beta thalassemia.

Homozygous beta thalassemia is a possible differential diagnosis.

Additional Note

Suggested Redding:

Beta thalassaemia homozygosity indicates that an individual has two identical β thalassaemia genes and no normal β gene whereas compound heterozygosity indicates that there are two different thalassaemia genes. Compound heterozygosity includes β0 β+ thalassaemia but it is also possible to have two non - identical β0 genes or two non-identical β+ genes. If one of more of the thalassaemia genes is β+ there will be some haemoglobin A present, but if both genes are β0 the only haemoglobins present will be F and A2.

β thalassaemia homozygosity and compound heterozygosity usually cause the clinical picture of β thalassaemia major. This condition is characterized by ineffective haemopoiesis, shortened red cell life - span, expanded intramedullary haemopoiesis and haemopoiesis at extramedullary sites such as the liver and spleen. Sufferers are, by defi nition, dependent on blood transfusions for survival. Less often the clinical picture is that of thalassaemia intermedia, a symptomatic condition of variable severity but, by definition, not requiring

transfusion for survival. Diagnosis of β thalassaemia homozygosity and compound heterozygosity is by demonstration that haemoglobin A is absent or greatly reduced with haemoglobin A2 being increased and with haemoglobin F being the dominant haemoglobin. Suitable techniques are HPLC , haemoglobin electrophoresis at alkaline pH and isoelectric focusing.

Variant Haemoglobins: A Guide to Identification. Barbara J. Bain, 2010. P61-62.