Hematology Case 37
Hematology Case 37
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Presented By Dr Mohammad Moharram
Released on 12-6-2020Patient Data
Patient Data
25 year old male
Clinical Data
Clinical Data
Patient is previously diagnosed as sickle cell anemia patient.
He visited ER many times before complaining of pain.
Patient is taking sulfinaile urea and folic acid but he stopped them 2 months ago. This was because clinics closure due to COVID19.
Patient came today to ER complaining of of pain in pelvis , bilateral hip bone and lower back for 4 days.
By examination; Abdomen is soft , lax but tender in lower abdomen.
No organomegally or other abnormal findings.
Patient was admitted as vaso-occlusive crisis. Investigations was ordered.
Related Laboratory Results
Related Laboratory Results
- CBC:
WBC: 7.9 X 103 /uL (Neutrophils: 5.3 X 103 /uL - Lymphocytes: 2.2 X 103 /uL)
RBC: 4.43 x106 /uL (4.5 -5.5)
HGB: 9.9 g/dL
MCV: 78 fL
MCH: 22.6 pG
MCHC: 28.7 %
Platelet: 185 X 103 /uL
Reticulocytes: 4.1% - Absolute: 168.9 X 109 /uL (R.R,: 50-100)
- Total Bilirubin : 45.7 umol/L (R.R.: 3-17)
- Direct Bilirubin: 8.9 umol/L (R.R.: 0-3)
- Serum Ferritin: 616 ng/mL (R.R.: 30-400)
- Serum iron: 15.8 (R.R.: 6-27)
Provisional Diagnosis
Provisional Diagnosis
Sickle cell anemia in vaso-occlusive crisis
Case Picture(s) / Photo(s)
Case Picture(s) / Photo(s)
Comment / Findings
Comment / Findings
HGB F: 7.1% -- high abnormal (R.R.: 0-1)
HGB A: 1.5% -- low abnormal (R.R.: 96-97.5)
HGB A2: 4.8% -- high abnormal (R.R.: 2-3.5)
HGB S: 79.1% -- High abnormal (R.R.: 0)
Final Diagnosis
Final Diagnosis
Pattern of homozygous sickle cell disease by HPLC technique for hemoglobin separation. However elevated HGB A2 , Absent HGB A and microcytic RBCs makes the differential diagnosis is between βs βs with coexisting α thalassaemia and βs β0 thalassaemia.
Genetic counselling, either family studies or DNA analysis is recommended.
N.B. In homozygous sickle cell disease, HGB F may be high up to 25% in association with the Arab-Indian haplotype
Additional Note
Additional Note
- In βs homozygotes (βs βs) the only haemoglobins present are S, A2 and F. Haemoglobin A2 may be slightly elevated, particularly if there is co-inheritance of α thalassaemia. Haemoglobin F is mildly elevated in homozygotes for βs associated with the Bantu, Benin or Cameroon haplotypes (5–7%) but may be more markedly elevated in association with the Senegal haplotype (7–10%) and even more in association with the Arab-Indian haplotype (10 – 25%).
- 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 A2, 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.
- Haemoglobin A2, which inhibits the polymerisation of haemoglobin S, can be present in normal amounts or be slightly elevated (usually 2–4%). Higher percentages are seen in those who also have α thalassaemia trait, although there is considerable variation in the mean levels reported in different series of patients . Haemoglobin F is usually only slightly elevated. Inevitably, the percentage of haemoglobin S correlates inversely with the percentage of haemoglobin F. The percentage of haemoglobin S also varies with the number of α genes and with the MCV and MCH. Looked at in another way, the coexistence of α thalassaemia trait with sickle cell anaemia leads to reduction of the MCV and MCH and a slight reduction of haemoglobin S percentage. Free α globin chain is increased; this correlates with a higher lactate dehydrogenase (LDH), bilirubin, dense red cell percentage, MCV, MCH and reticulocyte percentage and inversely with haemoglobin A2 percentage.
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