Watcharee Tantiprabha

Cord blood screening for Α-thalassemia and hemoglobin variants by isoelectric focusing in northern Thai neonates: Correlation with genotypes and hematologic parameters

We describe the screening of newborns for thalassemia and Hb variants by using isoelectric focusing (IEF) in a population from northern Thailand where hemoglobinopathies are highly prevalent. The report focuses on findings of alpha-thalassemia, Hb E, and other hemoglobin variants, and their correlation with genotypes and hematologic parameters. Two-hundred and seven out of 566 newborns (36.6%) had thalassemia genes or Hb variants. Seventeen different genotypes were found. Nine cases (1.6%) of Hb H disease (five deletional Hb H diseases, two Hb H/Constant Spring diseases, one deletional Hb H disease/Hb E, carrier and one Hb H/Constant Spring disease/Hb E carrier) and one Hb E-beta-thalassemia were identified. IEF could clearly distinguish Hb H diseases and carriers of two alpha-globin gene defects from normal individuals according to the presence of Hb Barts and its percentage. For carriers of a single alpha-globin gene defect, Hb Barts was either absent or present in a small amount and was therefore not reliable for screening. The presence of an additional band at the Hb A(2) position in the newborns signified an Hb E carrier. One case of an absent Hb A and a presence of Hb E was identified as Hb E-beta-thalassemia. Two Hb Q-Thailand carriers were seen with two additional Hb fractions, presumably combinations of gamma-globin and beta-globin with the alpha-globin variant. Newborns with Hb H disease had lower Hb, MCV, and MCH levels than normal. MCV and MCH were also useful for differentiation of carriers of two alpha-globin gene defects, but not for carriers of Hb E or single alpha-globin gene defect. IEF was a reliable method for neonatal cord blood screening for alpha-thalassemia and Hb variants.

Transcutaneous bilirubin nomogram for the first 144 hours in Thai neonates

Abstract Objectives: To develop an hour-specific transcutaneous bilirubin (TcB) nomogram for Thai neonates and to compare the ability of this nomogram with that of Bhutani’s total serum bilirubin (TSB) nomogram for prediction of significant hyperbilirubinemia requiring phototherapy. Methods: Healthy Thai neonates, gestational age ≥35-week-gestation and birth weight ≥2000 grams were enrolled. Neonates who could not attend the postdischarge follow-up at our center were excluded. TcB measurements were routinely performed at 6 am and 6 pm using JM103 transcutaneous bilirubinometer until the neonates were discharged or received phototherapy. TcB levels were also measured at least once during 24–72 hours after discharge and thereafter depending on the pediatricians’ decision. The nomogram was developed from the TcB data during age 12–144 hours of neonates who did not require phototherapy. The TcB values that obtained predischarge or before receiving phototherapy of all neonates were used to determine the predictive ability of this nomogram and Bhutani’s TSB nomogram. Results: A total of 1071 neonates were included. Two hundred forty-one neonates (22.5%) required phototherapy. The nomogram was constructed using 4834 hour-specific TcB values. It provided a good prediction with the area under curve (AUC) of 0.89. The 75th percentile tract revealed sensitivity and negative predictive value (NPV) of 87.1 and 95.4% while that of the 40th percentile tract were 97.9 and 98.5% respectively. When Bhutani’s nomogram was used, the AUC was 0.84. The sensitivity and NPV of the 75th percentile tract were 56.4 and 88.2%, and for the 40th percentile tract were 97.1 and 98.0% respectively. Conclusion: The newly developed TcB nomogram revealed slightly better predictive ability than Bhutani’s TSB nomogram for term and late preterm Thai neonates who were the population with high prevalence of significant hyperbilirubinemia. The 40th percentile curve of both nomograms should be considered as an appropriate cut-off level for prediction.

Accuracy of the Bilicare™ transcutaneous bilirubinometer as the predischarge screening tool for significant hyperbilirubinemia in healthy term and late preterm neonates

Abstract Background: The Bilicare™ is a new device that measures transcutaneous bilirubin (TcB) level at the ear pinna. There are only few studies which have evaluated its accuracy in clinical practice. Objective: This study aims to determine the accuracy of Bilicare™ as a predischarge screening tool in late preterm and term neonates and to define the optimal cutoff point for determining the need to measure total serum bilirubin (TSB). Methods: The 35 weeks’ gestation or more and healthy neonates who underwent predischarge TSB measurement were enrolled. Bilicare™ TcB was measured within 30 minutes of blood sampling. Paired TcB and TSB data were analyzed. Results: We collected 214 paired samples. Mean age (SD) at TcB measurement was 57.17 (7.47) hours. Mean TSB (SD) was 9.79 (2.83) mg/dL. TcB showed a significant correlation with TSB (r = 0.84, r2 = 0.7). The mean difference (SD) between TcB and TSB was 0.7 (0.21) mg/dL (95%CI 0.49–0.91). TcB tended to overestimate TSB level at the TSB values of <12 mg/dL but underestimate at the higher TSB level. The accuracy of using TcB values to detect neonates who required phototherapy was 92.5%. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were 78.3, 94.2, 62.1, and 97.3%, respectively. If TcB +3 mg/dL was applied as a cutoff point, the sensitivity, specificity, PPV, and NPV were 100, 53.9, 20.7, and 100%, respectively. Conclusions: Bilicare™ TcB and TSB measurements were well correlated. The TcB level +3 mg/dL could detect all neonates who had significant hyperbilirubinemia requiring phototherapy during their birth hospitalization.

Skin involvement in a newborn with down syndrome and transient myeloproliferative disorder

1. Hasle H, Kerndrup G, Jacobsen BB. Childhood myelodysplastic syndrome in Denmark: incidence and predisposing conditions. Leukemia. 1995;9: 1569–1572. 2. Emanuel PD. RAS pathway mutations in juvenile myelomonocytic leukemia. Acta Haematol. 2008;119:207–211. 3. Niemeyer CM, Kratz CP. Paediatric myelodysplastic syndromes and juvenile myelomonocytic leukaemia: molecular classification and treatment options. Br J Haematol. 2008;140:610–624. 4. Sugimoto Y, Muramatsu H, Makishima H, et al. Spectrum of molecular defects in juvenile myelomonocytic leukaemia includes ASXL1 mutations. Br J Haematol. 2010;150:83–87. 5. Shaffer LG, Tommerup N. ISCN 2005: an International System for Human Cytogenetic Nomenclature. Basel: S Karger; 2005. 6. Unal S, Cetin M, Kutlay NY, et al. Hemophagocytosis associated with leukemia: a striking association with juvenile myelomonocytic leukemia. Ann Hematol. 2010;89:359–364. 7. Matsuda K, Matsuzaki S, Miki J, et al. Chromosomal change during 6-mercaptopurine (6-MP) therapy in juvenile myelomonocytic leukemia: the growth of a 6-MP-refractory clone that already exists at onset. Leukemia. 2006;20:485–490.