Clinical and Molecular Characteristics of the β Spectrin Mutations
| Designation* . | Hb (g/dL) . | Retic (%) . | Sp/b3† (N: 0.97 ± 0.1) . | Ank/b3† (N: 0.17 ± 0.03) . | Nucleotide Change . | Amino Acid Change . | Exon . | Inheritance . |
|---|---|---|---|---|---|---|---|---|
| Sp Ostrava 699delT | 13.0 | 17 | 0.83 | 0.15 | T deletion at position 699 | Frameshift mutation | 6 | Dominant |
| Sp Tabor Q1946X | 10 | 25 | 0.73 | 0.14 | C → T at position 5931 | Gln → stop at codon 1946 | 28 | Dominant |
| Sp Houston 2872delA | 12.5 | 7 | 0.78 | 0.18 | A deletion at position 2872 | Frameshift mutation | 15 | Dominant |
| Sp Philadelphia 1862insA | 11.2 | ? | 0.85 | 0.20 | A insertion following position 1862 | Frameshift mutation | 13 | Dominant |
| Sp Baltimore Q845X | 8.5 | 18 | 0.84 | 0.15 | C → T at position 2628 | Gln → stop at codon 845 | 14 | Dominant |
| Sp Bergen 2441insA | 9-13.5 | 5-14 | 0.80 | 0.17 | A insertion following position 2441 | Frameshift mutation | 14 | Dominant |
| Sp Atlanta W182G | 13 | 5 | 0.75 | 0.15 | T → G at position 639 | Trp → Gly at codon 182 | 5 | Dominant |
| Sp Birmingham R1684C | 7 | 18 | 0.76 | 0.16 | C → T at position 5145 | Arg → Cys at codon 1684 | 25 | Recessive |
| Sp Oakland I220V | 10 | 10 | 0.74 | 0.15 | A → G at position 753 | Ileu → Val at codon 220 | 7 | Dominant |
| Sp Columbus P1227S | 11 | ? | 0.77 | 0.16 | C → T at position 3774 | Pro → Ser at codon 1227 | 17 | Dominant |
| Designation* . | Hb (g/dL) . | Retic (%) . | Sp/b3† (N: 0.97 ± 0.1) . | Ank/b3† (N: 0.17 ± 0.03) . | Nucleotide Change . | Amino Acid Change . | Exon . | Inheritance . |
|---|---|---|---|---|---|---|---|---|
| Sp Ostrava 699delT | 13.0 | 17 | 0.83 | 0.15 | T deletion at position 699 | Frameshift mutation | 6 | Dominant |
| Sp Tabor Q1946X | 10 | 25 | 0.73 | 0.14 | C → T at position 5931 | Gln → stop at codon 1946 | 28 | Dominant |
| Sp Houston 2872delA | 12.5 | 7 | 0.78 | 0.18 | A deletion at position 2872 | Frameshift mutation | 15 | Dominant |
| Sp Philadelphia 1862insA | 11.2 | ? | 0.85 | 0.20 | A insertion following position 1862 | Frameshift mutation | 13 | Dominant |
| Sp Baltimore Q845X | 8.5 | 18 | 0.84 | 0.15 | C → T at position 2628 | Gln → stop at codon 845 | 14 | Dominant |
| Sp Bergen 2441insA | 9-13.5 | 5-14 | 0.80 | 0.17 | A insertion following position 2441 | Frameshift mutation | 14 | Dominant |
| Sp Atlanta W182G | 13 | 5 | 0.75 | 0.15 | T → G at position 639 | Trp → Gly at codon 182 | 5 | Dominant |
| Sp Birmingham R1684C | 7 | 18 | 0.76 | 0.16 | C → T at position 5145 | Arg → Cys at codon 1684 | 25 | Recessive |
| Sp Oakland I220V | 10 | 10 | 0.74 | 0.15 | A → G at position 753 | Ileu → Val at codon 220 | 7 | Dominant |
| Sp Columbus P1227S | 11 | ? | 0.77 | 0.16 | C → T at position 3774 | Pro → Ser at codon 1227 | 17 | Dominant |
Abbreviations: Hb, hemoglobin; Retic, reticulocyte; Sp, spectrin; Ank, ankyrin; b3, band 3; N, normal.
The nomenclature adhered to is the one recently suggested for designating mutations,55 and the nucleotide and codon numbering is in accordance with a previously published reference.56
The expected normal values are indicated in parenthesis ± standard deviation.