Importance of neonatal screening: A case study of sickle cell disease and cystic fibrosis coexistence

Table 1 Results of neonatal screening and confirmatory sweat test

Exam	Method	Collection date	Result date	Result	Reference value
Hemoglobin analysis	Isoelectric focusing	10/13/2021	10/20/2021	FS	FA
Immunoreactive trypsinogen measurement	Immunoassay based on time-resolved fluorometry	10/13/2021	10/20/2021	92.81 ng/mL	< 70 ng/mL
Immunoreactive trypsinogen measurement	Immunoassay based on time-resolved fluorometry	11/08/2021	11/08/2021	216.70 ng/mL	< 70 ng/mL
Sweat test	Coulometria	11/18/2021	11/18/2021	98 mmol/L	< 60 mmol/L

FA: Fetal and adult hemoglobin; FS: Fetal and sickle hemoglobin.

Table 2 Laboratory tests upon admission in November 2021

Test	Result	Test	Result
Hb	8.9 g/dL	Creatinine	0.0189 µmol/L
HTC	27.5%	pH	7.54
MCV	98.7 fL	pO2	11.19 kPa
RDW	16%	pCO2	2.67 kPa
WBC	7990/L	HCO3	16.8 mEq/L
Platelets	330000/L	BE	-4.5
TBil	6.46 mg/dL	Glucose	5.27 mmol/L
DB	0.21mg/dL	Na	132 mEq/L
AST	86 U/L	K	4.7 mEq/L
ALT	30 U/L	Cl	109 mEq/L
AP	377 U/L	Albumin	1.8 g/dL
GGT	228 U/L	PTT	38.5 (35 seconds)
Urea	0.333 mmol/L	PA	51%

ALT: Alanine aminotransferase; AP: Alkaline phosphatase; AST: Aspartate aminotransferase; BE: Base excess; Cl: Chlorine; DB: Direct bilirubin; GGT: Gamma-glutamyl transferase; Hb: Hemoglobin; HTC: Hematocrit; K: Potassium; MCV: Mean corpuscular volume; Na: Sodium; PA: Prothrombin activity; PTT: Partial thromboplastin time; RDW: Red cell distribution width; TBil: Total bilirubin; WBC: White blood count.