Genetic mutation Congenital red blood cell membrane defect Hydrops fetalis Genetic mutation Congenital red blood cell membrane defect Hydrops fetalis ankyrin gene alpha spectrin gene beta-
Conditions
Interventions
Patient with history of hydrops fetalis whose peripheral blood smear is compatible with congenital red blood cell membrane defect and biological mother and father
Basic Science
Congenital red cell membrane defects pateint with history of hydrops fetaliof
Sponsors
Pediatric department , Faculty of medicine, Khon Kaen University
Eligibility
Sex/Gender
All
Age
1 Days to 18 Years
Inclusion criteria
Inclusion criteria: 1.newborn to 18 years old patients with history of hydrops fetalis whose peripheral blood smear compatible with congenital red blood cell membrane defect which is comfirm by 2 or more pediatric hematologist 2.biological father and mother of hydrops fetalis with congenital red blood cell membrane defect patients
Exclusion criteria
Exclusion criteria: Red cell membrane defect patient with no peripheral blood smear
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| genetic mutation of Alpha-spectrin, Beta-spectrin and Ankylin 18 months after end of the study PCR and DNA sequencing of Alpha-spectrin, Beta-spectrin and Ankylin gene sequence | — |
Secondary
| Measure | Time frame |
|---|---|
| Detemine clinical course of congenital red cell membranes defects with genetic mutation 18 months after end of the study Data collection of patient hematological profiles and clinical | — |
Countries
Thailand
Contacts
Public ContactChanoknun Jaruk
Unaffiliated
Outcome results
None listed