Abstract | PURPOSE: Nearly 1183 different molecular defects of the globin genes leading to hemoglobin variants have been identified (http:// globin.bx.psu.edu) over the past decades. The purpose of this study was to report three cases, never described in the literature, of co-inheritance of three β hemoglobin variants with other alterations in globin genes and to evaluate the clinical significance to conduct an appropriate genetic counseling. PATIENTS AND METHODS: We report the molecular study performed in three probands and their families, sampling during the screening program conducted at the Laboratory for Molecular Prenatal Diagnosis of Hemoglobinopathies at Villa Sofia-Cervello Hospital in Palermo, Italy. RESULTS: CONCLUSION: The present work emphasizes the importance of a careful evaluation of the hematological data, especially in cases of atypical hematological parameters, to carry out an adequate and complete molecular study and to formulate an appropriate genetic counseling for couples at risk.
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Authors | Margherita Vinciguerra, Cristina Passarello, Filippo Leto, Filippo Cassarà, Monica Cannata, Aurelio Maggio, Antonino Giambona |
Journal | European journal of haematology
(Eur J Haematol)
Vol. 94
Issue 4
Pg. 322-9
(Apr 2015)
ISSN: 1600-0609 [Electronic] England |
PMID | 25113778
(Publication Type: Case Reports, Journal Article)
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Copyright | © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. |
Chemical References |
- Hemoglobins, Abnormal
- alpha-Globins
- beta-Globins
- hemoglobin Görwihl
- hemoglobin Yaounde
- hemoglobin City of Hope
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Topics |
- Adult
- Aged
- Erythrocyte Indices
- Female
- Genetic Counseling
- Genetic Variation
- Hemoglobins, Abnormal
(genetics)
- Heterozygote
- Humans
- Inheritance Patterns
- Italy
- Male
- Mutation
- Pedigree
- Pregnancy
- Sequence Analysis, DNA
- Young Adult
- alpha-Globins
(genetics)
- beta-Globins
(genetics)
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