Anemia is a global health problem in all age groups. According to World Health Organization (WHO), approximately 40% of pregnant women are anemic. Iron deficiency anemia (IDA) due to nutritional deficiency is the most common cause. The incidence of IDA varies worldwide depending on the socioeconomic status, but it remains the leading cause even in developed countries. Physiologic anemia of pregnancy due to relatively higher expansion of blood volume in comparison with elevated red blood cell mass also occurs frequently. Complete blood count (CBC) in the first trimester is recommended for all pregnant women to screen for anemia. The screening of pregnant women for IDA in absence of anemia is still debatable. If IDA is suspected, ferritin level of <30 ng/ml is diagnostic. Iron supplementation is recommended for all pregnant women to compensate the increased demand.

Objective: Systemic mastocytosis is a hematologic malignancy characterized by clonal expansion of neoplastic mast cells. Detection of this variation is critical for screening and diagnosis, with recent guidelines emphasizing the need for high-sensitivity assays that identify variants at a variant allele frequency below 0.05%. Our reference laboratory offers droplet digital polymerase chain reaction (ddPCR) for detection of KIT D816V at a limit of detection of 0.03% variant allele frequency—substantially higher sensitivity than next-generation sequencing (NGS). Methods: Because high-sensitivity KIT D816V testing is still not widely available, we present our 3-year experience with KIT D816V ddPCR in a clinical setting. From January 2021 to March 2024, KIT D816V variation was detected in 14.9% (1232/8272) of samples. Results: Peripheral blood and bone marrow positivity rates were 11.1% and 34.9%, respectively. Among 181 samples tested by both ddPCR and NGS, ddPCR identified 37.6% as positive, while NGS identified only 6.0% as positive. Next-generation sequencing showed 16% sensitivity and 100% specificity for KIT D816V detection compared with ddPCR as the gold standard, which detected the variant in 84% more samples because of its lower limit of detection. A 20-ng/mL serum tryptase threshold to screen for detecting KIT D816V by ddPCR had 73.7% sensitivity and 91.2% specificity, but lowering the serum tryptase threshold to 11.5 ng/mL increased sensitivity to 97.5%, with 70.7% specificity. Conclusions: Overall, ddPCR for detection of KIT D816V dramatically increases sensitivity over NGS tests used for myeloid malignancies, including systemic mastocytosis. Our findings also provide support for the use of a lower serum tryptase threshold (>11.4 ng/mL instead of >20ng/mL) to initiate workup for a mast cell neoplasm.

High prevalence of hemoglobin (Hb) disorders mandates national programs for screening and genetic counseling in many countries. Increased Hb A₂ levels are commonly associated with β-thalassemias, however, various disorders including alteration of δ chains may result in decreased production of Hb A₂, thus hindering the diagnosis of β-thalassemias. The reported data reflect the experience of a large reference laboratory in the United States. In the current study, we have attempted to assess the prevalence and also tried to characterize the identified mutations in the HBD gene resulting in decreased Hb A₂ levels. In our cohort, 1.6% of 6486 patients were found to have Hb A₂ values of C).