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Two individuals were found to have hemoglobin C, an abnormal hemoglobin variant. This variant results from a specific amino acid change in the beta chain of adult hemoglobin.
Area of Science:
- Hematology
- Molecular Biology
- Genetics
Background:
- Normal adult hemoglobin (hemoglobin A) has glutamic acid at positions six and seven of the beta chain.
- Hemoglobin C is a variant where lysine replaces glutamic acid at position six.
- Two variants with lysine at position seven have been previously identified.
Purpose of the Study:
- To screen a population for abnormalities in hemoglobin synthesis.
- To identify and characterize novel hemoglobin variants using electrophoretic techniques.
Main Methods:
- Screening of approximately 20,000 blood samples from the Saskatchewan population.
- Electrophoretic analysis to detect abnormal hemoglobin patterns.
- Purification and "fingerprinting" of abnormal hemoglobin for detailed analysis.
Main Results:
- Two blood samples exhibited an electrophoretic pattern consistent with hemoglobins A and C.
- The abnormal hemoglobin isolated was identified as classical hemoglobin C (alpha(2)beta(2) 6 glu --> lys).
- Both individuals with hemoglobin C were healthy blood donors from diverse backgrounds.
Conclusions:
- The study identified two cases of hemoglobin C in the Saskatchewan population.
- Conventional electrophoretic techniques are effective in detecting common hemoglobin variants like hemoglobin C.
- Hemoglobin C can be present in healthy individuals without apparent clinical manifestation.
Abstract:
In the beta chain of normal adult hemoglobin, the amino acid residues in positions six and seven are glutamic acid. In hemoglobin C, lysine replaces the glutamic acid residue in position six. Two hemoglobin variants have been described in which lysine replaces the glutamic acid residue in position seven.During a search for abnormalities of hemoglobin synthesis detectable by conventional electrophoretic techniques, some 20,000 blood samples were screened from the population of Saskatchewan. Two specimens gave an electrophoretic pattern of hemoglobins A and C. The abnormal hemoglobin was purified and "finger printed" and found to be the same as classical hemoglobin C (i.e. alpha(2)beta(2) 6 glu --> lys). Both specimens had originated from healthy blood donors, one a Ghanaian student and the other a young white man of immigrant Irish-Scottish parents living near Saskatoon.