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670 Possible Causes for Beta Thalassemia, Hepatomegaly

  • Extramedullary Hematopoiesis

    Massive hepatomegaly is a common finding in hydrops fetalis (HF) arising from hemoglobinopathies.[ncbi.nlm.nih.gov] Herein, we report the imaging findings of beta-thalassemia in a 13-year-old boy complaining of weakness of left side of the body and gait disturbance; CT and MRI revealed[ncbi.nlm.nih.gov] Her serum creatinine and iron studies were within normal limits and her hemoglobin electrophoresis pattern was that of beta thalassemia minor.[ncbi.nlm.nih.gov]

  • Alpha Thalassemia

    Concurrent alpha thalassemia might be a protective trait against significant hepatomegaly in sickle cell anaemia patients more than 60 months of age at Mulago hospital.[ncbi.nlm.nih.gov] beta-thalassemia minor.[ncbi.nlm.nih.gov] He also had moderate anemia, hepatomegaly and hypospadias.[ncbi.nlm.nih.gov]

  • Congenital Hepatic Fibrosis

    The age at presentation ranged from 1.8-14 years (mean: 7.5 years); clinical manifestations at diagnosis were splenomegaly (12), hepatomegaly (11), failure to thrive (10),[ncbi.nlm.nih.gov] RAFFAELE DEL MONTE TABOR Full Title: PLERIXAFOR MOBILIZED STEM CELLS AS SOURCE FOR GENE THERAPY OF BETA-THALASSEMIA AMD-THAL .[clinicaltrialsregister.eu] Hepatomegaly was present in all patients and splenomegaly in all but one.[ncbi.nlm.nih.gov]

  • Sickle Cell Disease

    There are two types of beta thalassemia: “0” and “ ”. Those with HbS beta 0-thalassemia usually have a severe form of SCD.[cdc.gov] Additional autopsy findings included cardiomegaly with a heart weight of 450 gm (312 78), right atrial and right ventricular chamber dilatation, and hepatomegaly with a liver[ncbi.nlm.nih.gov] If mutations that produce hemoglobin S and beta thalassemia occur together, individuals have hemoglobin S- beta thalassemia (HbSBetaThal) disease.[ghr.nlm.nih.gov]

  • Thalassemia

    The presence of hepatomegaly was a statistically significant predictor for poor physical QOL (OR   8.5, p   0.02).[ncbi.nlm.nih.gov] Other forms include BT associated with Hb anomalies (HbE - beta-thalassemia resulting in BTI or less frequently BT-major, HbC - beta-thalassemia, delta-beta-thalassemia and[orpha.net] They also have massive hepatomegaly due to heart failure and extramedullary hematopoiesis.[emedicine.medscape.com]

  • Primary Hyperoxaluria

    He presented with fatigue, anorexia, weight loss, and was found to have cachexia, diffuse edema, hepatomegaly, ascites, hypercalcemia, hyperphosphatemia, hypoalbuminemia,[ncbi.nlm.nih.gov] Thalassemia HBB Birt - Hogge -Dube FLCN Blepharophimosis -ptosis-epicanthus inversus FOXL2 Brachydactyly GDF5 Brachydactyly - Hypertension Syndrome HTNB Hereditary Breast[embryoadoptionusa.com] […] optic nerve Damage to the retina Inflammation of heart membrane (myocarditis) Irregular heartbeat Stroke (cardioembolic) Enlarged spleen (splenomegaly) and enlarged liver (hepatomegaly[dovemed.com]

  • Hemochromatosis

    […] transferrin saturation (TS); ALT; AST; GGT; elevated C-reactive protein; ß-thalassemia; neutrophils; lymphocytes; monocytes; platelets; metacarpophalangeal joint hypertrophy; hepatomegaly[ncbi.nlm.nih.gov] In case 1, we detected heterozygosity for a novel HJV mutation (g.3659_3660insG), which was inherited together with the beta thalassemia trait from the father, who (as well[ncbi.nlm.nih.gov] Liver abnormalities associated with classic hereditary hemochromatosis include hepatomegaly, and scarring of the liver (cirrhosis), high blood pressure of the branches of[rarediseases.org]

  • Cholelithiasis

    Sickle cell intrahepatic cholestasis (SCIC) is a rare complication seen in sickle cell patients who present with sudden onset of RUQ pain, progressive hepatomegaly, mild elevation[ncbi.nlm.nih.gov] Impaired gallbladder motility and delayed orocecal transit contribute to pigment gallstone and biliary sludge formation in beta-thalassemia major adults.[jpediatricsreview.com] […] fever Right upper quadrant pain There may be Yang jaundice that is bright and sometimes itches Anorexia Tendency toward Liver enlargement Dry stools Yellow urine Jaundice Hepatomegaly[americandragon.com]

  • Familial Hemophagocytic Lymphohistiocytosis

    Diagnosis is challenging because it mimics severe sepsis by demonstrating hepatomegaly, splenomegaly, persistent fever, central nervous system involvement, and cytopenias.[ncbi.nlm.nih.gov] […] polyposis syndrome (JPS) P278-PCCA-PCCB Propionic acidemia P190-CHEK2 Breast cancer, susceptibility P319-Thyroid Thyroid dysgenesis P098-Wilson disease Wilson disease P102-HBB Beta-thalassemia[mlpa.com] The typical clinical characteristics of FHL are a prolonged fever that is accompanied by hepatomegaly, elevated liver enzymes, cytopenias, and less commonly, a rash and lymphadenopathy[symptoma.com]

  • Pernicious Anemia

    Some people with Pernicious Anemia may have an abnormally enlarged liver (hepatomegaly) or spleen (splenomegaly).[rarediseases.org] We have described a a 23-year-old black woman with sickle cell beta-thalassemia who had a urinary tract infection and who was incidentally found to be pancytopenic.[ncbi.nlm.nih.gov] Hepatomegaly and splenomegaly may be present.[patient.info]

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