Medical SpecialtyOpen Access

Determining the importance and frequency of the β-thalassemia carriage in neonates with prolonged jaundice

2017
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Advisor: Prof. Hüseyin Gülen

Abstract (EN)

DETERMINING THE IMPORTANCE AND FREQUENCY OF THE β-THALASSEMIA CARRIAGE IN NEONATES WITH PROLONGED JAUNDICE Purpose: Etiologically; in prolonged jaundiced newborns, breast milk jaundice, Coomb's positive and negative hemolytic reasons, infections, endocrinologic reasons such as hypothyroidism, toxic reasons, medications, chromosomal anomalies are among the factors. In this study the importance and incidence of β-thalassemia carriage is tried to be determined. Material and Method: This study was carried out on 69 newborns admitted to Celal Bayar University Medical Faculty Pediatric Hematology outpatient clinic between September 2014 - September 2015. Approval from Ethics Committee was obtained. The cases, on first admission, were analysed by total blood cell count, total indirect bilirubin, DC test, urine analysis/urine culture, reductant substances in urine, thyroid function tests, G6PD levels and peripheral blood smear. To determine the β-thalassemia carriage on the age of 1 years, total blood cell count and hemoglobin elctrophoresis by HPLC were studied in patients. Results: Out of 69 patients, 29 were girls (%42), 40 were boys (%58). 13 (%18.8) patients were preterm and 56 (%81.2) were term newborns. Congenital hypothyroidism was found in 1 (%1.4) of the 68 patients. Overall, in 7 (%10.1) newborns, symptoms of infection were present. From these 7 newborns, 6 had urinary tract infection and 1 had pneumonia/sepsis. G6PD test could only be analyzed for 42 (%60.9) patients and all the test results were normal. Reductant substances in urine tests were examined for 16 patients and 1 patient's result (%6.3) was determined to be pathologic. DC test was negative for all patients. 2 (%2.8) patients had ABO incompatibility, 1 (%1.4) patient had Rh incompatibility and 1 (%1.4) patient had subgroup incompatibility. In 1 (%1.4) patient, hereditary spherocytosis was found. In % 52.7 of the patients no etiologic factors were detected, as a result these were considered as breast milk jaundice. %26.5 of the patients were considered anemic and %22.3 of these patients had Mentzer index ≤13. From 45 patients, 2 (%4.4) had Hb A2 elevation, 6 (%13.3) had Hb F elevation. Both Hb F and Hb A2 elevation was present in 1 (%2.2) patient. 7 (%15,5) patients had abnormal HLPC results. 2 (%4.4) patients were regarded as classic β-thalassemia carriers. Conclusion: Even though %15.5 of prolonged jaundiced newborns had abnormal HPLC findings, classic β-thalassemia carriage was found to be above average in Turkey but in local population, it was close to average. Keywords: prolonged hyperbilirubinemia, β- thalassemia carriage.

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Özen Atik

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Özen Atik (Medical Specialty Thesis). Determining the importance and frequency of the β-thalassemia carriage in neonates with prolonged jaundice, 2017, Manisa Celal Bayar University.

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