During a pandemic, people are fearful of becoming infected with the virus, which causes anxiety, loss of purpose, and depression. This study aimed to evaluate the social and psychological impact, as well as the impact on homecare, of patients with hemoglobinopathies during the pandemic. Material and Methods: In total, 130 patients from four Thalassemia and Sickle Cell Disease Units of the National Health System of Greece Hospitals were examined via an anonymous questionnaire developed and distributed through stratified sampling. Results: Transfusion-dependent thalassemia, transfused sickle cell disease, and other hemoglobinopathies were represented by 130 patients. During the pandemic, the main concern of patients was the affordability of blood for transfusion. During the lockdown, patients’ moods varied, and their daily lives were disrupted by a lack of access to basic goods and communication with friends and family. Their eating habits, access to exercise, and, to a lesser extent, their financial situation have all been affected in their daily lives. It is crucial to highlight that while access to health services did not suffer in terms of medication and regular visits for their actual disease, it did suffer in terms of the systematic monitoring of complications.

Hemoglobin (Hb) Agrinio is a rare non-deletional a-globin mutation observed almost exclusively in Greek, Spanish or other Mediterranean families. The clinical manifestations of a carrier of a single Hb Agrinio mutation (single heterozygosity) depend on the concomitant presence or absence of other mutations or variants in the beta, alpha or other modifying genes. We present a Greek patient harboring a Hb Agrinio variant plus the - -Med alpha deletional allele, having an infrequent severe form of alpha thalassemia, in contrast to the typical alpha thalassemic patient and requiring regular red blood cell (RBC) transfusions and chelation treatment. We also provide a concise literature review regarding alpha thalassemic hemoglobin variants and their molecular and clinical combinations. A phase 2, double-blind, randomized, placebo-controlled, multicenter clinical trial to determine the efficacy and safety of luspatercept (BMS-986346/ACE-536) for the treatment of anemia in adults with alpha thalassemia with the participation of our center is currently recruiting patients (NCT05664737).

Background/Objectives: Sickle cell disease (SCD) is a multi-systemic hemoglobinopathy affecting many patients worldwide. Clinical manifestations include vaso-occlusive (VOC), aplastic, or hemolytic crises. Anemia of a complex etiology is also very common. However, detailed data regarding the level of anemia in Greek or Mediterranean populations with SCD/β-thalassemia are limited. Methods: We retrospectively investigated anemia in 53 SCD patients and described the molecular background regarding mutations in beta and alpha alleles in 49 SCD patients (49/53, representing 92.45% of the cohort). DNA analysis was performed in the Laboratory of Medical Genetics, National and Kapodistrian Athens University. Results: The median age was 50 years (range 18–79 years). A total of 20 patients (38%) were diagnosed with severe anemia (Hgb < 8 g/dL), and 6 patients had a very severe degree of anemia (Hgb < 7 g/dL). On the contrary, four patients had very mild or no anemia, depending on their sex. The median hemoglobin levels of the cohort were 8.72 g/dL (range 6.5–13.3 g/dL), while median reticulocyte levels were 183 K/μL (range 18.35–706 K/μL). We found that patients with the beta zero thalassemic allele had statistically decreased Hgb levels (mean Hgb 8.29 g/dL) and thus a more severe degree of anemia compared with SCD patients with a beta plus allele (mean Hgb 9.48 g/dL, p = 0.010 < 0.05, Student’s t test). Conclusions: Our genotype-stratified analysis characterized the molecular basis of anemia in a well-defined cohort of SCD patients. Clinical trials and future research are essential to investigate possible novel drugs for treating anemia and managing its long-term complications in SCD patients.