You will be presented with 8 clinical scenarios of children with hemoglobinopathies.
For each, interpret the Hb electrophoresis and provide: 1) Diagnosis, 2) Any other test, 3) What to do next, 4) Follow-up plan.
Case 1
A 6-year-old asymptomatic child presents with mildly low hemoglobin in school screening. Family history of anemia in father.
Hemoglobin
10.2 g/dL (low-normal)
MCV
68 fL (low)
Ferritin
95 ng/mL (normal)
HbA
92.0%
HbA2
5.5% (elevated)
HbF
2.5% (normal)
1️⃣ Diagnosis: (Write your answer below)
2️⃣ Any other test: (Write your answer below)
3️⃣ What to do next: (Write your answer below)
4️⃣ Follow-up plan: (Write your answer below)
✅ Model Answer:
• Diagnosis: β-thalassemia trait (β-thal minor) – microcytic anemia with elevated HbA2 (>3.5%), normal ferritin.
• Any other test: Parental Hb electrophoresis (to confirm carrier status), iron studies (already normal), genetic counseling.
• What to do next: Reassurance; no iron therapy needed. Avoid unnecessary iron supplementation. Genetic counseling for family (25% risk of thalassemia major if both parents carriers).
• Follow-up plan: Monitor Hb annually. If planning pregnancy, partner should be tested for hemoglobinopathies.
Case 2
A 2-year-old with pallor, jaundice, and hepatosplenomegaly. No transfusion history.
Hemoglobin
5.2 g/dL (low)
MCV
68 fL (low)
Reticulocyte Count
1.5% (low for degree of anemia)
HbA
0% (absent)
HbF
96% (markedly elevated)
HbA2
4.0% (elevated)
1️⃣ Diagnosis: (Write your answer below)
2️⃣ Any other test: (Write your answer below)
3️⃣ What to do next: (Write your answer below)
4️⃣ Follow-up plan: (Write your answer below)
✅ Model Answer:
• Diagnosis: β-thalassemia major – severe anemia, absent HbA, elevated HbF, elevated HbA2; transfusion-dependent.
• Any other test: Parental Hb electrophoresis (β-thal trait), genetic testing for β-globin mutations, serum ferritin (baseline).
• What to do next: Start regular RBC transfusions (pre-transfusion Hb 9.5-10.5). Extended RBC phenotyping (C, E, K) to prevent alloimmunization. Folic acid supplementation.
• Follow-up plan: Monitor ferritin q3 months. Plan iron chelation (deferasirox) after 10-20 transfusions or ferritin >1000. Consider HSCT (curative) with matched sibling donor.
Case 3
A 4-year-old presents with pallor, jaundice, and finger swelling.
Hemoglobin
7.5 g/dL (low)
MCV
82 fL (normal)
Reticulocyte Count
12% (elevated)
HbA
0% (absent)
HbS
88%
HbF
10%
HbA2
2.0%
1️⃣ Diagnosis: (Write your answer below)
2️⃣ Any other test: (Write your answer below)
3️⃣ What to do next: (Write your answer below)
4️⃣ Follow-up plan: (Write your answer below)
✅ Model Answer:
• Diagnosis: Sickle cell disease (HbSS) – no HbA, HbS predominant, variable HbF.
• Any other test: Parental Hb electrophoresis (both parents HbAS), TCD screening for stroke risk, newborn screening confirmation.
• What to do next: Start penicillin VK prophylaxis (by 2 months). Folic acid supplementation. Hydroxyurea (from 9 months) to reduce crises. Pneumococcal vaccination.
• Follow-up plan: Annual TCD (2-16 years). Monitor for acute chest syndrome, splenic sequestration, stroke. Chronic transfusions if abnormal TCD. Hydroxyurea dose titration.
Case 4
A 15-year-old with chronic hemolytic anemia, splenomegaly, and jaundice.
Hemoglobin
10.0 g/dL (low)
MCV
78 fL (normal)
Reticulocyte Count
8% (elevated)
HbS
60%
HbC
40%
HbF
0.5%
1️⃣ Diagnosis: (Write your answer below)
2️⃣ Any other test: (Write your answer below)
3️⃣ What to do next: (Write your answer below)
4️⃣ Follow-up plan: (Write your answer below)
✅ Model Answer:
• Diagnosis: HbSC disease (sickle cell-hemoglobin C disease) – HbS + HbC, mild-moderate hemolytic anemia, splenomegaly.
• Any other test: Parental Hb electrophoresis (AS and AC), TCD screening (stroke risk lower than HbSS, but still monitor), ophthalmology consult (retinopathy risk).
• What to do next: Folic acid supplementation. Penicillin prophylaxis (until 5 years, may continue if splenectomy). Hydroxyurea may be considered for frequent crises.
• Follow-up plan: Annual ophthalmology for retinopathy. Monitor for avascular necrosis, leg ulcers. TCD screening (if HbSS-like phenotype). Genetic counseling.
Case 5
A 3-year-old with moderate hemolytic anemia, microcytic indices, and splenomegaly. Hb electrophoresis shows a fast-moving band.
Hemoglobin
8.0 g/dL (low)
MCV
65 fL (low)
Reticulocyte Count
10% (elevated)
HbA
70%
HbH (β4)
10% (fast band)
HbA2
1.5% (low)
HbF
1.0%
1️⃣ Diagnosis: (Write your answer below)
2️⃣ Any other test: (Write your answer below)
3️⃣ What to do next: (Write your answer below)
4️⃣ Follow-up plan: (Write your answer below)
✅ Model Answer:
• Diagnosis: HbH disease (α-thalassemia with 3 gene deletion) – HbH (β4) on electrophoresis, hemolytic anemia, microcytosis.
• Any other test: α-globin gene deletion analysis (PCR), parental α-thal testing, newborn Hb Bart's (if available).
• What to do next: Folic acid supplementation. Avoid oxidative drugs (sulfa, dapsone, nitrofurantoin). Transfuse if severe anemia during crises.
• Follow-up plan: Monitor Hb, reticulocytes. Iron chelation if iron overload (ineffective erythropoiesis). Genetic counseling for parents (risk of hydrops if both have cis deletion).
Case 6
A newborn with body swelling, hepatosplenomegaly, and severe anemia.
Hemoglobin
3.0 g/dL (very low)
MCV
85 fL (normal)
HbA
0% (absent)
HbF
0% (absent)
Hb Bart's (γ4)
90%
Hb Portland
10%
1️⃣ Diagnosis: (Write your answer below)
2️⃣ Any other test: (Write your answer below)
3️⃣ What to do next: (Write your answer below)
4️⃣ Follow-up plan: (Write your answer below)
✅ Model Answer:
• Diagnosis: Hydrops fetalis (α-thalassemia major) – 4 gene deletion, Hb Bart's (γ4) only, fatal without intrauterine transfusion.
• Any other test: Parental α-globin gene deletion analysis (both parents likely --/αα), prenatal diagnosis for future pregnancies.
• What to do next: Intrauterine transfusion (if diagnosed prenatally). Postnatal supportive care, exchange transfusion, consider HSCT (if survives).
• Follow-up plan: If survival, chronic transfusions and HSCT. Genetic counseling for parents (25% risk of hydrops in each pregnancy).
Case 7
A 10-year-old asymptomatic child 0resents with CBC and electrophresis during routine school screening.
Hemoglobin
11.0 g/dL (normal)
MCV
80 fL (normal)
HbA
73%
HbF
25% (elevated)
HbA2
2.0% (normal)
1️⃣ Diagnosis: (Write your answer below)
2️⃣ Any other test: (Write your answer below)
3️⃣ What to do next: (Write your answer below)
4️⃣ Follow-up plan: (Write your answer below)
✅ Model Answer:
• Diagnosis: Hereditary Persistence of Fetal Hemoglobin (HPFH) – elevated HbF (20-30%) without anemia or microcytosis. Benign condition.
• Any other test: Family screening (autosomal dominant inheritance), rule out β-thalassemia (HbA2 normal), genetic testing for HPFH mutations.
• What to do next: Reassurance; no treatment needed. Do not confuse with β-thalassemia major.
• Follow-up plan: No specific follow-up. If co-inherited with β-thalassemia, may ameliorate severity.
Case 8
A 3-year-old with severe anemia, jaundice, and hepatosplenomegaly.
Hemoglobin
4.0 g/dL (low)
MCV
72 fL (low)
Reticulocyte Count
1.0% (low)
HbA
0% (absent)
HbF
100%
HbA2
0%
1️⃣ Diagnosis: (Write your answer below)
2️⃣ Any other test: (Write your answer below)
3️⃣ What to do next: (Write your answer below)
4️⃣ Follow-up plan: (Write your answer below)
✅ Model Answer:
• Diagnosis: β-thalassemia major (homozygous β⁰/β⁰) – HbF only, no HbA, no HbA2. Severe transfusion-dependent anemia.
• Any other test: Parental Hb electrophoresis (β-thal trait), genetic testing for β-globin mutations, serum ferritin (baseline).
• What to do next: Start chronic transfusions immediately (pre-transfusion Hb 9.5-10.5). Extended RBC phenotyping (C, E, K). Folic acid. Plan for iron chelation.
• Follow-up plan: Monitor ferritin, MRI T2* for liver and cardiac iron. Start deferasirox after 10-20 transfusions. Evaluate for HSCT (curative) with matched sibling donor.