Dehydrated hereditary stomatocytosis with new missense mutations in PIEZO1 through the use of next-generation sequencing panel

In this case study, we report an 11-year-old male patient who had jaundice, hepatosplenomegaly, and chronic mild congenital non-autoimmune hemolytic anemia. In our patient, a novel homozygous missense mutation in the PIEZO1 gene was detected using a gene-targeted Next-Generation Sequencing panel: c.3364G>A (p.Glu1122Lys), confirming the diagnosis of DHS.

Graves Disease (Thyroid Storm) with Polyautoimmune Disorders (Autoimmune Hemolytic Anemia and Probable Autoimmune Hepatitis)

Graves' disease is caused by IgG antibodies that bind to the Thyroid Stimulating Hormone (TSH) receptor on the surfaceof the thyroid gland. These bonds drive the growth of stimulated thyroid follicular cells causing the glands to enlarge andincrease the production of thyroid hormones. Previous studies mention the association of HLA-B8 and HLA-DR3 withGraves' disease and the Cytotoxic T-lymphocyte-associated-4 (CTLA-4) gene on chromosome 2q33 as a result of reducingT-cell regulation, resulting in autoimmune disease. Autoimmune thyroid disease is often found together with otherautoimmune disorders (polyautoimmune). A 51-year-old male complained of dyspnea, yellowing of the body, and a lumpon the neck. One year ago, he was diagnosed with hyperthyroidism. Graves' disease was suspected due to a score of 22 forthe Wayne index, FT4 96.9 pmol/L, TSHs <0.01 μIU/mL, TRAb 10.8 IU/L, thyroid uptake test for toxic diffuse struma. Inaddition, the patient had atrial fibrillation and a thyroid storm with a Bruch Wartofsky index score of 65. Laboratoryexamination found normocytic normochromic anemia, thrombocytopenia, reticulocytosis, direct coomb test and autocontrol results positive one, SGOT 87 U/L, SGPT 59 U/L, alkali phosphatase 166 U/L, total bilirubin 38.13 mg/dL, directbilirubin 16.59 mg/dL, indirect bilirubin 21.54, LDH 318 U/L, establishing the diagnosis of Autoimmune Hemolytic Anemia(AIHA). Autoimmune hepatitis score: 15, so a diagnosis of probable autoimmune hepatitis was made.

Autoimmune Hemolytic Anemia in Chronic Lymphocytic Leukemia: A Comprehensive Review

Chronic lymphocytic leukemia (CLL) patients have a greater predisposition to develop autoimmune complications. The most common of them is autoimmune hemolytic anemia (AIHA) with a frequency of 7–10% of cases. Pathogenesis is multifactorial involving humoral, cellular, and innate immunity. CLL B-cells have damaged apoptosis, produce less immunoglobulins, and could be responsible for antigen presentation and releasing inflammatory cytokines. CLL B-cells can act similar to antigen-presenting cells activating self-reactive T helper cells and may induce T-cell subsets imbalance, favoring autoreactive B-cells which produce anti-red blood cells autoantibodies. Treatment is individualized and it depends on the presence and severity of clinical symptoms, disease status, and comorbidities. Corticosteroids are the standardized first-line treatment; second-line treatment comprises rituximab. Patients not responding to corticosteroids and rituximab should be treated with CLL-specific drugs as per current guidelines according to age and comorbidities. New targeted drugs (BTK inhibitors and anti BCL2) are recently used after or together with steroids to manage AIHA. In the case of cold agglutinin disease, rituximab is preferred, because steroids are ineffective. Management must combine supportive therapies, including vitamins; antibiotics and heparin prophylaxis are indicated in order to minimize infectious and thrombotic risk.