Table 1.

Hematological and Biochemical Data

Patient Age (yr) Hb (g/dL) Reticulocyte Counts (μL) DIisoSp:Band 3 Ratio % of SpD in 4°C Extracts % of SpαI/74 Variant % of SpαV/41 Peptide
Father  25 14.8  84,800  0.20  0.96  54.2  43.2  
Mother 29  12.1  65,450  0.12  1.04  40.2  45  4.7 
Proband  1  8.3  243,500  0.12  0.97  45.8 56.5  1.5  
Normal values    0.38 to 0.52  0.98 ± 0.06 (n = 40) 21.1 ± 1.8 (n = 7)   2.3 ± 0.4 (n = 10)* 
        4.1 ± 1.6 (n = 4)  
Patient Age (yr) Hb (g/dL) Reticulocyte Counts (μL) DIisoSp:Band 3 Ratio % of SpD in 4°C Extracts % of SpαI/74 Variant % of SpαV/41 Peptide
Father  25 14.8  84,800  0.20  0.96  54.2  43.2  
Mother 29  12.1  65,450  0.12  1.04  40.2  45  4.7 
Proband  1  8.3  243,500  0.12  0.97  45.8 56.5  1.5  
Normal values    0.38 to 0.52  0.98 ± 0.06 (n = 40) 21.1 ± 1.8 (n = 7)   2.3 ± 0.4 (n = 10)* 
        4.1 ± 1.6 (n = 4)  

DIiso, deformability index in isotonicity (osmotic gradient ektacytometry studies).

*

Values observed in normal control subjects heterozygous for the SpαLely allele.

 Values observed in normal control subjects homozygous for the SpαLely allele.

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