Hemoglobin Woodville associated with double point mutation in the gene of glucose-6-phosphate dehydrogenase
The co-inheritance of erythrocyte defects, hemoglobinopathies, enzymopathies, and membranopathies is not an unusual event. For the diagnosis, a laboratory strategy, including screening and confirmatory tests, additional to molecular characterization, was designed. As the result of this approach, a 24-year-old man carrying a hemoglobinopathy (Hemoglobin Woodville) and an enzymopathy (glucose-6-phosphate dehydrogenase deficiency) was identified. In the heterozygous state hemoglobin Woodville, is asymptomatic, and homozygous or double heterozygous individuals have not been reported thus far. On the other hand, previously described double point mutation in the gene for glucose-6-phosphate dehydrogenase c. [202G>A; 376A>G], p. [Val 68Met; Asn126Asp], causes hemolysis of varying severity after food or drug intake or infections. This case highlights the importance of the methodology carried out for the diagnosis, treatment, and proper genetic counseling.
| Medienart: |
Artikel |
|---|
| Erscheinungsjahr: |
2015 |
|---|---|
| Erschienen: |
2015 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:75 |
|---|---|
| Enthalten in: |
Medicina - 75(2015), 6 vom: 01., Seite 404-6 |
| Sprache: |
Spanisch |
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| Weiterer Titel: |
Hemoglobina Woodville asociada a una doble mutación puntual en el gen de la glucosa-6-fosfato deshidrogenasa |
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| Beteiligte Personen: |
Mansini, Adrián P [VerfasserIn] |
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| Anmerkungen: |
Date Completed 02.06.2016 Date Revised 28.12.2015 published: Print Citation Status MEDLINE |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM255929676 |
|---|
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| 100 | 1 | |a Mansini, Adrián P |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Hemoglobin Woodville associated with double point mutation in the gene of glucose-6-phosphate dehydrogenase |
| 246 | 3 | 3 | |a Hemoglobina Woodville asociada a una doble mutación puntual en el gen de la glucosa-6-fosfato deshidrogenasa |
| 264 | 1 | |c 2015 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ohne Hilfsmittel zu benutzen |b n |2 rdamedia | ||
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| 500 | |a Date Completed 02.06.2016 | ||
| 500 | |a Date Revised 28.12.2015 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a The co-inheritance of erythrocyte defects, hemoglobinopathies, enzymopathies, and membranopathies is not an unusual event. For the diagnosis, a laboratory strategy, including screening and confirmatory tests, additional to molecular characterization, was designed. As the result of this approach, a 24-year-old man carrying a hemoglobinopathy (Hemoglobin Woodville) and an enzymopathy (glucose-6-phosphate dehydrogenase deficiency) was identified. In the heterozygous state hemoglobin Woodville, is asymptomatic, and homozygous or double heterozygous individuals have not been reported thus far. On the other hand, previously described double point mutation in the gene for glucose-6-phosphate dehydrogenase c. [202G>A; 376A>G], p. [Val 68Met; Asn126Asp], causes hemolysis of varying severity after food or drug intake or infections. This case highlights the importance of the methodology carried out for the diagnosis, treatment, and proper genetic counseling | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a English Abstract | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Woodville hemoglobin | |
| 650 | 4 | |a abnormal hemoglobins | |
| 650 | 4 | |a glucose-6-phosphate dehydrogenase deficiency | |
| 650 | 7 | |a Hemoglobins, Abnormal |2 NLM | |
| 650 | 7 | |a hemoglobin Woodville |2 NLM | |
| 650 | 7 | |a 102641-40-7 |2 NLM | |
| 650 | 7 | |a Glucosephosphate Dehydrogenase |2 NLM | |
| 650 | 7 | |a EC 1.1.1.49 |2 NLM | |
| 700 | 1 | |a Fernández, Diego A |e verfasserin |4 aut | |
| 700 | 1 | |a Aguirre, Fernando M |e verfasserin |4 aut | |
| 700 | 1 | |a Pepe, Carolina |e verfasserin |4 aut | |
| 700 | 1 | |a Milanesio, Berenice |e verfasserin |4 aut | |
| 700 | 1 | |a Chaves, Alejandro |e verfasserin |4 aut | |
| 700 | 1 | |a Eandi Eberle, Silvia |e verfasserin |4 aut | |
| 700 | 1 | |a Feliú Torres, Aurora |e verfasserin |4 aut | |
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