Genetic mutation of congenital red cell membrane defects in neonatal jaundice

Not Applicable

Recruiting

• Conditions: owadays, Genetic mutations; but genetic mutation is vary according to race; Congenital red cell membrane defect; Neonatal jaundice; genetic mutation testing is can help to determine the red cell membrane defects and severity of the disease, Hereditary spherocytosis; Hereditary elliptocytosis; Hereditary pyropoikilocytosis; Hereditary Southeast Asian ovalocytosis

• Registration Number: TCTR20200818002
• Lead Sponsor: /A

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2020-08-18
• Study Completion: 2022-02-28
• 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 red cell membrane defects in Srinagarind hospital
2. History of coombs negative hemolytic neonatal jaundice
3. Peripheral blood smear was confirmed by 2 hematologic pediatricians

Exclusion Criteria

1. Peripheral blood smear wasn’t confirmed
2. Other causes of neonatal jaundice, ex.
Coomb’s positive hemolytic jaundice
G6PD deficiency
Non-hemolytic neonatal jaundice (Polycythemia, increase enterohepatic circulation)
Breastfeeding jaundice
Breastmilk jaundice
Neonatal jaundice due to hypothyroidism
Cholestatic jaundice

Study & Design

• Study Type: Observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Frequency of mutation genes in red cell membrane defect patient with neonatal jaundice 1st visit at OPD or IPD PCR and DNA sequencing

Secondary Outcome Measures

Name	Time	Method
Genotype-phenotype correlation of mutation genes in red cell membrane defect patient 1st visit at OPD or IPD Genotype-phenotype correlation of mutation genes