Rare anemias

BACKGROUND: Congenital dyserythropoietic anemia Ⅱ (CDA Ⅱ) is a rare inherited disorder of defective erythropoiesis caused by SEC23B gene mutation. CDA Ⅱ is often misdiagnosed as a more common type of clinically related anemia, or it remains undiagnosed due to phenotypic variability caused by the coexistence of inherited liver diseases, including Gilbert's syndrome (GS) and hereditary hemochromatosis. METHODS: We describe the case of a boy with genetically undetermined severe hemolytic anemia, hepatosplenomegaly, and gallstones whose diagnosis was achieved by targeted next generation sequencing...

BACKGROUND: Black disease, also known as visceral leishmaniasis (VL), is a parasitic illness caused by various Leishmania species. The risk of morbidity and mortality increases with delayed diagnosis and treatment. Early VL diagnosis and fast appropriate treatment are critical issues in endemic areas. METHODS: This study was a retrospective cross-sectional study to investigate the diagnostic and therapeutic course of patients admitted with the diagnosis of VL in the Children's Medical Center (CMC) Hospital, Tehran, Iran...

Dear Editor, Ticks carry many diseases, bacteria, and viruses and represent a very important healthcare issue both in Croatia and globally. Although most ticks are not infected with pathogens dangerous to humans, some ticks can transmit infectious diseases with significant morbidity and mortality. This is caused by the increasing incidence of many tick-borne diseases over a growing geographical area. Many factors influence which species of ticks are present in a given geographical area, as well as the density of their population and the risk of human exposure to infected ticks...

Mycosis fugnoides (MF) is an indolent cutaneous T-cell lymphoma (CTLC) and is the most common of all cutaneous lymphomas. An increased risk for developing a second primary malignancy in patients with CTCL has been described in several studies, with a range from 1.04 to 2.4 (1-4). Caucasian males are at higher risk for MF development. MF is often diagnosed at ages between 55 and 67 years, and second malignancy usually occurs 5 or 6 years after the diagnosis of MF was established (5). The most common second primary malignancies include non-Hodgkin lymphoma (NHL), Hodgkin lymphoma (HL), lung carcinoma, bladder carcinoma, and melanoma...

Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening hematological disorder of immune dysregulation associated with significant challenges in diagnosis and management. Described as primary HLH secondary to genetic defects or more commonly secondary to infections, it can also occur secondary to malignancy, i.e., malignancy-associated hemophagocytic lymphohistiocytosis (M-HLH). A five-year-old male child presented with left cervical adenopathy and a high-spiking fever for two weeks. He had pallor, anasarca, multiple enlarged and matted cervical lymph nodes, respiratory distress, and hepatomegaly...

Adult-onset Still's disease (AOSD) is a rare systemic autoinflammatory disorder characterized by fever, rash, and joint pain. Despite primarily affecting young adults, it can occur at any age, presenting diagnostic challenges due to its heterogeneous nature and lack of specific laboratory findings. The subset of AOSD with positive antinuclear antibody (ANA) adds complexity, potentially overlapping with other autoimmune conditions. We describe a case of a 30-year-old female with a two-year history of fever, weight loss, and joint pain, initially misdiagnosed as seronegative arthritis with hypothyroidism...

Angiolipomas are rare, benign tumors characterized by a mixture of adipose tissue and blood vessels, distinguishing them from lipomas. This case involves a 52-year-old woman with no significant medical history who presented with generalized weakness, fatigue, and intermittent, painless rectal bleeding over six months, initially dismissed as hemorrhoidal. Despite exhibiting mild pallor and trace rectal bleeding upon examination, significant iron-deficiency anemia was diagnosed through laboratory tests. Incorporating colonoscopy and computed tomography, the diagnostic process identified a 2 cm submucosal lesion in the ascending colon, characterized as a well-defined, fat-density mass...

Intramural intestinal hematoma is a rare disease, one of the triggering factors of which is the use of anticoagulants. In previous reports, most patients were on treatment with warfarin. Herein, we report a case of direct-acting oral anticoagulant (DOAC)-induced intramural hematoma of the ascending colon in a patient refractory to conservative treatment and required laparoscopic right hemicolectomy. An 80-year-old male patient with a history of atrial fibrillation and cerebral infarction, on treatment with apixaban, was brought to our hospital with the chief complaints of abdominal pain, vomiting, and melena...

The complementation Q group (FANCQ) subtype of Fanconi anemia (FA) caused by the ERCC4/XPF mutation is very rare. Two siblings, aged 13 and 10 with Fanconi phenotypic features, presented with right hemiparesis and focal-onset seizures. In both cases, cranial magnetic resonance imaging (MRI) showed mass-like lesions accompanied by peripheral edema and calcification. In one case, oral steroid treatment and surgical excision were performed, while in the other case, the cranial lesion regressed just with steroid treatment and without surgery...

A 58-year-old female was found to have hyperferritinemia (Serum ferritin:1683 ng/mL) during work-up for mild normocytic anemia. Transferrin saturation(TSAT) was low-normal. Magnetic resonance imaging (MRI) abdomen showed evidence of hepatic iron deposition. Liver biopsy showed 4 + hepatic iron deposition without any evidence of steatosis or fibrosis. Quantitative liver iron was elevated at 348.3 µmol/g dry liver weight [Reference range(RR): 3-33 µmol/g dry liver weight]. She was presumptively diagnosed with tissue iron overload, cause uncertain...

Sickle cell anemia (SCA) is the most common cause of stroke in children. As it is a rare disease, studies investigating the association with complications like stroke in SCD have small sample sizes. Here, we performed a systematic review and meta-analysis of the studies exploring an association of genetic variants with stroke to get a better indication of their association with stroke. PubMed and Google Scholar were searched to identify studies that had performed an association analysis of genetic variants for the risk of stroke in SCA patients...

Paroxysmal nocturnal hemoglobinuria (PNH) results from the loss of erythrocyte surface proteins, leading to complement activation and its spectrum of effects. We explore this case of a 57-year-old man with post-essential thrombocythemia (ET) myelofibrosis (MF) who developed symptomatic anemia with evidence of hemolysis on lab work. While hemolysis was localized to be intramedullary based on workup, the exact diagnosis was undetermined, leading to a prolonged course of steroid therapy to control anemia. The hemolysis was eventually attributed to PNH diagnosed on flow cytometry and the patient was treated with complement inhibitors with eventual failure of therapy...

BACKGROUND Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is an important treatment for severe aplastic anemia (SAA). It is known that SAA can evolve into malignant clonal diseases, such as acute myeloblastic leukemia (AML) or myelodysplastic syndrome. However, the transformation of SAA into AML after allo-HSCT is a rare phenomenon. Here, we report a case of SAA transformed into AML after patient received human leucocyte antigen (HLA)-matched sibling peripheral blood stem cell transplantation...

Paragangliomas (PGLs) are rare neuroendocrine tumors which overproduce catecholamines (CAs). They are extra-adrenal, catecholamine-secreting tumors occurring outside the adrenal glands. Gastric PGLs originating from extra-adrenal paraganglia are exceptionally rare, and their presentation in geriatric patients further adds to the complexity of diagnosis and management. A 72-year-old male patient presented with enduring left upper abdominal pain and anemia persisting for over a year, and hypertension for six months...

Pedunculated submucosal leiomyomas of the uterus that prolapse into the vagina are common. In extremely rare cases, large pedunculated submucosal leiomyomas may lead to bilateral obstructive uropathy, causing severe renal dysfunction and potentially being misdiagnosed as intracervical leiomyoma. The present study describes the surgical treatment of a patient with a large prolapsed pedunculated submucosal uterine leiomyoma, which was misdiagnosed as an intracervical fibroid. The patient, of menopausal age, presented with uterine bleeding, anemia and severe renal dysfunction...

Alpha and Beta Thalassemia are autosomal recessive anemias that cause significant morbidity and mortality worldwide, especially in the Middle East and North Africa (MENA) region where carrier rates reach up to 50%. We report the case of two siblings of Palestinian origin born who presented to our tertiary healthcare center for the management of severe transfusion dependent hemolytic anemia. Before presentation to our center, the siblings were screened for a-thalassemia using the Alpha-globin StripAssay. They were found to carry the α2 polyA-1 [AATAAA > AATAAG] mutation in the heterozygous form, which was insufficient to make a diagnosis...

Complement inhibitors are the mainstay of paroxysmal nocturnal hemoglobinuria (PNH) treatment. The anti-C5 monoclonal antibody eculizumab was the first treatment to improve hemolysis, thrombotic risk, and survival in PNH although at the price of a life-long intravenous fortnightly drug. Additionally, suboptimal response may occur in up to 2/3 of patients with persistent anemia due to incomplete control of intravascular hemolysis, development of upstream C3-mediated extravascular hemolysis (EVH), or concomitant bone marrow failure...

Thrombotic thrombocytopenic purpura (TTP) is one of the rarely encountered complications of hump-nosed viper bites, which requires early detection and specific management. Hump-nosed viper bites are well known to affect multiple systems, and it is imperative to identify and manage each complication simultaneously. A 48-year-old patient presented to the hospital following a hump-nosed viper bite, where he subsequently developed local necrosis, acute kidney injury (AKI), and TTP. A diagnosis of TTP was made using the PLASMIC score (which refers to the score's seven components: platelet count; combined hemolysis variable; absence of active cancer; absence of stem-cell or solid organ transplant; mean corpuscular volume (MCV); international normalized ratio (INR); and creatinine) and supporting blood picture findings despite the diagnostic difficulties encountered due to the misleadingly normal automated platelet counts...

Sickle cell disease is a hereditary red blood cell disorder characterized by hemolytic anemia, particularly in association with stress. As they grow, most children with sickle cell anemia undergo auto-splenectomy, making them vulnerable to serious infections. Patients with sickle cell disease infected with the SARS-CoV-2 virus are reported to have an increased risk for hospitalization, thrombosis, and other complications compared to non-sickle cell patients. Influenza infection in patients with sickle cell is associated with increased morbidity...

ADH5/ALDH2 deficiency is a rare inherited syndrome characterized by short stature, microcephaly, delayed mental development, and hematopoietic dysfunction and has recently been proposed as a disease paradigm. Acute and severe presentations include aplastic anemia, myelodysplastic syndrome, or leukemia, requiring bone marrow transplantation during childhood. Conversely, non-hematological manifestations may exhibit a prolonged and nonspecific clinical trajectory, with growth failure and developmental delay, most of which are often overlooked, particularly in patients with milder symptoms...