The Ethnic Origin, Location of Mutations, and Clinical Manifestation of Patients Previously Reported and From This Study
| Ethnic Origin . | Genotype (amino acid substitution) . | Domains . | Clinical Information . | Reference . |
|---|---|---|---|---|
| US white | 1022G → C/1456C → T (G341A/R486W) | A/C | Transfused | 9 |
| Irish | 823G → C/1484C → T (G275R/A495V) | A/C | Splenectomy | 19 |
| Irish | 391-393del/1529G → A (1131del/R510Q) | A/C | Splenectomy | 19 |
| Hispanic | 1501C → T/1529G → A (Q501Ter/R510Q) | A/C | Transfused | 19 |
| English | 1127G → T/1456C → T (S376I/R486W) | A/C | Splenectomy | 4 |
| Variable | 1529G → A/1529G → A (R510Q) | C/C | Was variable | 4 |
| Unknown | 721G → T/1529G → A (E241Ter/R510Q) | B/C | Transfused | 19 |
| Irish | 391-393del/603G → A (I131del/W201Ter) | A/B | Splenectomy | 19 |
| US white | 476G → T/1529G → A (G159V/R510Q) | B/C | Hemolytic anemia | This study |
| Indian | 884G → T/+ (A295V/+) | A/+ | Heterozygote | This study |
| Indian | 943G → A/1456C → T (E315K/R486W) | A/C | Hemolytic anemia, neonatal jaundice | This study |
| Portuguese | 1022G → A/993A (G341D/D331Q) | A/A | Hydrops | This study |
| Portuguese | 1022G → A/? (G341D/?) | A/? | Severe hemolytic anemia | This study |
| Brazilian white | 1511G → T/1511G → T (R504L) | C/C | Severe hemolytic anemia | This study |
| Romanian/Puerto Rican | 1528T/+ (R510Ter/+) | C/+ | Mother of a child with severe hemolytic anemia | This study |
| Ethnic Origin . | Genotype (amino acid substitution) . | Domains . | Clinical Information . | Reference . |
|---|---|---|---|---|
| US white | 1022G → C/1456C → T (G341A/R486W) | A/C | Transfused | 9 |
| Irish | 823G → C/1484C → T (G275R/A495V) | A/C | Splenectomy | 19 |
| Irish | 391-393del/1529G → A (1131del/R510Q) | A/C | Splenectomy | 19 |
| Hispanic | 1501C → T/1529G → A (Q501Ter/R510Q) | A/C | Transfused | 19 |
| English | 1127G → T/1456C → T (S376I/R486W) | A/C | Splenectomy | 4 |
| Variable | 1529G → A/1529G → A (R510Q) | C/C | Was variable | 4 |
| Unknown | 721G → T/1529G → A (E241Ter/R510Q) | B/C | Transfused | 19 |
| Irish | 391-393del/603G → A (I131del/W201Ter) | A/B | Splenectomy | 19 |
| US white | 476G → T/1529G → A (G159V/R510Q) | B/C | Hemolytic anemia | This study |
| Indian | 884G → T/+ (A295V/+) | A/+ | Heterozygote | This study |
| Indian | 943G → A/1456C → T (E315K/R486W) | A/C | Hemolytic anemia, neonatal jaundice | This study |
| Portuguese | 1022G → A/993A (G341D/D331Q) | A/A | Hydrops | This study |
| Portuguese | 1022G → A/? (G341D/?) | A/? | Severe hemolytic anemia | This study |
| Brazilian white | 1511G → T/1511G → T (R504L) | C/C | Severe hemolytic anemia | This study |
| Romanian/Puerto Rican | 1528T/+ (R510Ter/+) | C/+ | Mother of a child with severe hemolytic anemia | This study |