Genetic mutation of congenital red cell membrane defects in hydrops fetalis

Phase 1

Recruiting

• Conditions: 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- spectrin gene

• Registration Number: TCTR20201128002
• Lead Sponsor: Pediatric department , Faculty of medicine, Khon Kaen University

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2020-11-28
• Study Completion: 2021-06-30
• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: All
• Target Recruitment: 50

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

Red cell membrane defect patient with no peripheral blood smear

Study & Design

• Study Type: Observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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 Outcome Measures

Name	Time	Method
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