Persistent Tachypnea in Children
| ISSN: | 1077-4114 |
|---|---|
| Přístupová URL adresa: | https://explore.openaire.eu/search/publication?articleId=doi_________::e1c4aa1e85b0233fc5a99bc1401fc8cf https://doi.org/10.1097/00043426-199811000-00013 |
| Přírůstkové číslo: | edsair.doi...........e1c4aa1e85b0233fc5a99bc1401fc8cf |
| Autor: | J. B. Wilson, Ferdane Kutlar, Anne Marie McMorrow Tuohy, Hernan Sabio, Virgil McKie, Abdullah Kutlar |
| Rok vydání: | 1998 |
| Předmět: |
Genetics
Hemolytic anemia medicine.medical_specialty Hb Hammersmith business.industry Anemia Isopropanol stability Congenital Heinz body hemolytic anemia De novo mutation Hematology HEINZ BODY HEMOLYTIC ANEMIA medicine.disease Endocrinology Hemoglobinopathy Oncology Internal medicine Pediatrics Perinatology and Child Health Medicine business |
| Zdroj: | Journal of Pediatric Hematology/Oncology. 20:570-573 |
| ISSN: | 1077-4114 |
| Popis: | Purpose To present the occurrence of Hb Hammersmith as a de novo mutation in African-American twins with multiple congenital anomalies. Methods Standard hematologic methods were used. The presence of an unstable Hb variant was confirmed by brilliant cresyl blue staining and an isopropanol stability test. Hb Hammersmith was confirmed by the sequencing of polymerase chain reaction-amplified beta-globin gene. Results The presence of Hb Hammersmith was confirmed in female monozygotic twins of African-American origin with congenital Heinz body hemolytic anemia and multiple congenital anomalies. The variant occurred as a de novo mutation in the twins. Conclusion This report describes the occurrence of Hb Hammersmith [B42(CD1)Phe-->Ser] in African-American twins. As with the other reported cases, both twins were female. In addition to Heinz body hemolytic anemia, a low arterial O2 saturation in the proposita was shown by pulse oximetry. Multiple congenital anomalies involving various systems were also found in both twins. |
| Databáze: | OpenAIRE |
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