A 13-year-old black girl was admitted to the hospital appearing acutely ill with fever and abdominal pain. On physical e
Posted: Tue Mar 15, 2022 2:54 pm
A 13-year-old black girl was admitted to the hospital appearing
acutely ill with fever and abdominal pain. On physical examination,
an enlarged spleen was evident. Laboratory test results were as
follows:
Hgb: 5.0 g/dL
Hct: 15%
RBC count: 1.4 × 1012/L
WBC count: 2.2 × 109/L
Reticulocyte count: 1%
RBC indices: Normal
Platelet count: 400 × 109/L
Differential:
Segmented neutrophils: 62%
Bands: 12%
Lymphocytes: 19%
Monocytes: 4%
Eosinophils: 2%
Basophils: 1%
Hemoglobin electrophoresis, alkaline pH, showed one band in the
HbS position and one band in the HbC position. The hemoglobins were
quantified as 55% HbS and 45% HbC plus A2. Hemoglobins S and C were
confirmed by electrophoresis at acid pH.
1. In reviewing the electrophoretic data, what diagnosis is
suggested?
2. Comment on crystal formation in this condition.
3. Discuss the clinical presentation of the patient. Is it
consistent with HbSC disease?
4. This girl's parents have no hematologic problems; therefore,
for her to have HbSC disease, what would be their most likely
genotypes?
5. The inheritance of structurally abnormal hemoglobins follows
simple mendelian laws. With parents having the trait form of HbS
and HbC, what would be the expected genotypes in any of four
children?
acutely ill with fever and abdominal pain. On physical examination,
an enlarged spleen was evident. Laboratory test results were as
follows:
Hgb: 5.0 g/dL
Hct: 15%
RBC count: 1.4 × 1012/L
WBC count: 2.2 × 109/L
Reticulocyte count: 1%
RBC indices: Normal
Platelet count: 400 × 109/L
Differential:
Segmented neutrophils: 62%
Bands: 12%
Lymphocytes: 19%
Monocytes: 4%
Eosinophils: 2%
Basophils: 1%
Hemoglobin electrophoresis, alkaline pH, showed one band in the
HbS position and one band in the HbC position. The hemoglobins were
quantified as 55% HbS and 45% HbC plus A2. Hemoglobins S and C were
confirmed by electrophoresis at acid pH.
1. In reviewing the electrophoretic data, what diagnosis is
suggested?
2. Comment on crystal formation in this condition.
3. Discuss the clinical presentation of the patient. Is it
consistent with HbSC disease?
4. This girl's parents have no hematologic problems; therefore,
for her to have HbSC disease, what would be their most likely
genotypes?
5. The inheritance of structurally abnormal hemoglobins follows
simple mendelian laws. With parents having the trait form of HbS
and HbC, what would be the expected genotypes in any of four
children?