Abstract
Congenital hemolytic anemias (CHAs) are a group of diseases characterized by premature destruction of erythrocytes as a consequence of intrinsic red blood cells abnormalities. Suggestive features of CHAs are anemia and hemolysis, with high reticulocyte count, unconjugated hyperbilirubinemia, increased lactate dehydrogenase (LDH), and reduced haptoglobin. The peripheral blood smear can help the differential diagnosis. In this review, we discuss the clinical management of severe CHAs presenting early on in the neonatal period. Appropriate knowledge and a high index of suspicion are crucial for a timely differential diagnosis and management. Here, we provide an overview of the most common conditions, such as glucose-6-phosphate dehydrogenase deficiency, pyruvate kinase deficiency, and hereditary spherocytosis. Although rare, congenital dyserythropoietic anemias are included as they may be suspected in early life, while hemoglobinopathies will not be discussed, as they usually manifest at a later age, when fetal hemoglobin (HbF) is replaced by the adult form (HbA).
Highlights
Congenital hemolytic anemias (CHAs) are a group of intrinsic red blood cells (RBCs) disorders that share similar clinical and laboratory features related to the reduced RBCs lifespan [1].CHAs are classified based on the pathophysiology [1,2] (Table 1): Hemoglobin (Hb) disorders; Erythrocyte membrane/cytoskeleton defects; RBCs enzyme deficiencies; Defective erythropoiesis
The World Health Organization (WHO) suggests neonatal screening of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the regions where the incidence in males is higher than 3–5% by the fluorescent spot test, a qualitative test where nicotinamide adenine dinucleotide phosphate (NADPH) is detected under ultraviolet light [43]
CHAs are a rare cause of anemia in the neonatal age and, due to unspecific and overlapping clinical features, they are frequently misdiagnosed with potential impact on treatment and follow-up
Summary
Congenital hemolytic anemias (CHAs) are a group of intrinsic red blood cells (RBCs) disorders that share similar clinical and laboratory features related to the reduced RBCs lifespan [1]. The onset time of jaundice in G6PD-deficient newborns is delayed compared to the other CHAs, with a bilirubin peak in the 2◦–3◦ day of life, making G6PD deficiency jaundice hardly distinguishable from the physiological one [26,27,28] In contrast, the most severe cases of CHAs may manifest early in fetal life, with intrauterine growth retardation (IUGR) and nonimmune hydrops fetalis syndrome, requiring in utero transfusions, which may lead to premature birth or even death [16,29,30,31] Several factors, both genetic and environmental, may contribute to the severity of the clinical symptoms. Hour-specific total serum bilirubin (TSB) nomograms are available elsewhere [23]
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