Clinical and molecular characterization of novel deletions causing epsilon gamma delta beta thalassemia: Report of two cases
| Autor: | Sarah Mc Dermott, Elena Repnikova, Midhat S. Farooqi, Weijie Li, Nazia Tabassum Iqbal, Jdl Nolen, Eugenio Taboada, Jennifer Roberts, Michael Silvey |
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| Rok vydání: | 2019 |
| Předmět: |
Male
0301 basic medicine Hemolytic anemia medicine.medical_specialty HBG1 Anemia Thalassemia DNA Mutational Analysis HBE1 Gastroenterology HBG2 Pathology and Forensic Medicine 03 medical and health sciences Neonatal Screening 0302 clinical medicine hemic and lymphatic diseases Internal medicine medicine Humans Alleles Sequence Deletion Newborn screening business.industry Infant Newborn Cell Biology medicine.disease Extramedullary hematopoiesis 030104 developmental biology Multigene Family 030220 oncology & carcinogenesis Female business |
| Zdroj: | Pathology - Research and Practice. 215:152578 |
| ISSN: | 0344-0338 |
| DOI: | 10.1016/j.prp.2019.152578 |
| Popis: | Epsilon gamma delta beta (eγδβ)0 - thalassemia is a very rare disorder that results from large deletions in the β-globin gene cluster which abolish all regional globin chain gene expression from that allele. Since it is an exceedingly rare cause of neonatal anemia and is not detected by routine newborn screening, it is usually not suspected clinically and commonly undiagnosed or misdiagnosed. In this study, we describe two patients diagnosed in our hospital with (eγδβ)0-thalassemia based on the results obtained from DNA microarray analysis of their peripheral blood. The first patient of mixed European descent presented as a neonate with microcytic hemolytic anemia, hyperbilirubinemia, hypoglycemia and hypothermia, and was found to have a 2.2 Mb loss that included the entire β-globin gene cluster and the locus control region (LCR). The second patient, also of mixed European descent, presented in the neonatal period with anemia, thrombocytopenia and cutaneous extramedullary hematopoiesis, and was found to have a 59 kb loss that included the β-globin LCR, HBE1, HBG1, and HBG2 genes. Both cases highlight the importance of recognizing the clinical features of (eγδβ)0-thalassemia and implementing appropriate testing to clarify the diagnosis and manage the condition. |
| Databáze: | OpenAIRE |
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