| Full text | |
| Author(s): |
Pedroso, Gisele A.
[1]
;
Kimura, Elza M.
[1]
;
Santos, Magnun N. N.
[1]
;
Albuquerque, Dulcineia M.
[2]
;
Malimpensa, Danae
[1]
;
Jorge, Susan E.
[1]
;
Verissimo, Monica P. A.
[3]
;
Costa, Fernando F.
[2]
;
Sonati, Maria F.
[1]
Total Authors: 9
|
| Affiliation: | [1] State Univ Campinas UNICAMP, Hemoglobinopathies Lab, Dept Clin Pathol, Sch Med Sci, Campinas, SP - Brazil
[2] State Univ Campinas UNICAMP, Hematol & Hemotherapy Ctr, Campinas, SP - Brazil
[3] Boldrini Childrens Ctr, Campinas, SP - Brazil
Total Affiliations: 3
|
| Document type: | Journal article |
| Source: | PEDIATRIC BLOOD & CANCER; v. 65, n. 12 DEC 2018. |
| Web of Science Citations: | 2 |
| Abstract | |
Hemoglobin (Hb) Zurich-Albisrieden (ZA) {[}2 59(E8) Gly>Arg; HBA2:c.178G>C] is a rare and highly unstable -chain variant. A few simple and compound heterozygotes ((ZA)/ and -/(ZA), respectively) have been described so far in Switzerland and China. We describe here a case of homozygosity for the Hb ZA mutation ((ZA)/(ZA)) in a Brazilian child with severe congenital hemolytic anemia and ineffective erythropoiesis. (AU) | |
| FAPESP's process: | 14/00984-3 - Red blood cell disorders: pathophysiology and new therapeutic approaches |
| Grantee: | Fernando Ferreira Costa |
| Support Opportunities: | Research Projects - Thematic Grants |
| FAPESP's process: | 15/13710-1 - Structural and functional study of human hemoglobin variants |
| Grantee: | Susan Elisabeth Domingues Costa Jorge |
| Support Opportunities: | Scholarships in Brazil - Post-Doctoral |