hemochromatosis thrombocytopenia

Health questionnaires and donation criteria result in accumulation of highly selected individuals in a blood donor population. To understand better the usefulness of a blood donor-based biobank in personalised disease-associated genetic studies, and for possible personalised blood donation policies, we evaluated the occurrence and distributions of common and rare disease-associated genetic variants in Finnish Blood Service Biobank. We analysed among 31,880 blood donors the occurrence and geographical distribution of (i) 53 rare Finnish-enriched disease-associated variants, (ii) mutations assumed to influence blood donation: four Bernard-Soulier syndrome and two hemochromatosis mutations, (iii) type I diabetes risk genotype HLA-DQ2/DQ8...

BACKGROUND: Limited dead donor pool paved the way for living liver donation so that waitlist mortality could be reduced. With over two decades of experience in the East as well as in the West, right lobe adult-to-adult living donor liver transplantation has become an established intervention. The short-term surgical outcomes, complications and health-related quality of life are well known. There is dearth of data on long-term health of remnant liver of donors, especially after a decade of donation...

INTRODUCTION: Gaucher disease is an autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase which leads to an accumulation of glucosylceramide in the macrophages. Splenomegaly, hepatomegaly, cytopenias (anemia, thrombocytopenia) and bone disorders are the main symptoms. The diagnosis is often delayed, leading to unnecessary investigations and treatments, and delaying the specific treatment. The primary objective of our study was to establish, in patients who had a diagnostic delay of more than one year, the reported misdiagnoses before the final diagnosis...

RATIONALE: Hereditary hemochromatosis (HH) is a major cause of liver iron overload. The gold standard for the diagnosis of liver iron overload is the histopathological analysis of a liver sample collected by biopsy. The biopsy procedure is both invasive and painful and carries some risks of complications. The multi-echo single-voxel magnetic resonance spectroscopy (HISTO) technique can be used for noninvasive, quantitative assessment of liver iron overload. PATIENT CONCERNS: We report 4 Chinese Han men, who were relatives...

Linezolid (LZD) is an effective drug in treating multidrug-resistant tuberculosis and extensively drug-resistant tuberculosis. This study aimed to evaluate the safety of LZD in the treatment of patients with rifampicin resistant tuberculosis. This was a multicenter retrospective study. A total of 184 patients of the rifampicin resistant tuberculosis patients treated with LZD from Jan 2018 to Apr 2020 in three hospitals were involved, and their clinical symptoms were recorded and analyzed. Meanwhile, the types and incidence of adverse effects associated with LZD were evaluated...

Gaucher disease is a disorder of lysosomes caused by a functional defect of the glucocerebrosidase enzyme. The disease is mainly due to mutations in the GBA1 gene, which determines the gradual storage of glucosylceramide substrate in the patient's macrophages. In this paper, we describe the case of a 38-year-old man who clinically presented with hyperferritinemia, thrombocytopenia, leukopenia, anemia and mild splenomegaly; a diagnosis of hemochromatosis was made 10 years earlier. Re-evaluation of the clinical case led to a suspicion of Gaucher disease, which was confirmed by enzymatic analysis, which was found to be below the normal range, and genetic evaluation, which identified compound heterozygosity N370S/RecNciI...

Intravenous immune globulin (IVIG) is made after processing plasma from healthy donors. It is composed mainly of pooled immunoglobulin and has clinical evidence-based applications in adult and pediatric populations. Recently, several clinical applications have been proposed for managing conditions in the neonatal population, such as hemolytic disease of the newborn, treatment, and prophylaxis for sepsis in high-risk neonates, enterovirus parvovirus and COVID-19 related neonatal infections, fetal and neonatal immune-induced thrombocytopenia, neonatal hemochromatosis, neonatal Kawasaki disease, and some types of immunodeficiency...

Gaucher disease (GD), a rare lysosomal storage disorder caused by deficient glucocerebrosidase activity and consequent accumulation of glycosphingolipids in the mononuclear phagocyte system, may progress to disabling and potentially life-threatening complications when left undiagnosed and untreated. Unfortunately, because of non-specific signs and symptoms and lack of awareness, patients with type 1 GD, the most common non-neuropathic variant, frequently experience diagnostic delays. Since splenomegaly and thrombocytopenia are the dominant clinical features in many GD patients leading to first medical contact, the hepatologist and the gastroenterologist need to be aware of this condition...

We report a multiplex family with a GATA1 gene mutation responsible for a massive fetal cerebral hemorrhage occurring at 36 weeks. Two other stillbirth cousins presented with fetal hydrops and congenital hemochromatosis' phenotype at 37 and 12 weeks of gestation. Molecular screening revealed the presence of a c.613G>A pathogenic allelic variation in exon 4 of GATA1 gene in the 3 male siblings and their carrier mothers. The diagnosis of a GATA1 gene mutation may be suspected in cases of male fetuses with intracerebral bleeding, particularly if a history of prior fetal loss(es) and mild maternal thrombocytopenia are also present...

A 21-year-old man, allogeneic hematopoietic stem cell transplantation recipient, was referred to our nuclear medicine department for a suspicion of knee osteonecrosis. Bone scan with Tc-HMDP did not show abnormal bone uptake but an intense spleen accumulation. F-FDG PET/CT performed on the same day showed no pathological spleen uptake. The patient had secondary hemochromatosis resulting from frequent transfusions in the setting of a chronic graft versus host disease with hemolysis and thrombocytopenia. The last RBC and platelet transfusions were performed 9 and 2 days before the examination, respectively...

The fetoplacental interface plays a unique role in pathologies of the fetus and neonate, and is increasingly being recognized for effects on fetal and neonatal development that resonate into adulthood. In this review, we will use several exemplary disorders involving each of the 3 types of blood cells to explore the effect of perinatal insults on subsequent development of the affected cell line. We will present new data regarding outcomes of infants treated prenatally for fetal and neonatal alloimmune thrombocytopenia (FNAIT) and contrast these with outcomes of infants affected by hemolytic disease of the fetus and newborn...

Oral manifestations of hematologic and nutritional deficiencies can affect the mucous membranes, teeth, periodontal tissues, salivary glands, and perioral skin. This article reviews common oral manifestations of hematologic conditions starting with disorders of the white blood cells including cyclic hematopoiesis (cyclic neutropenia), leukemias, lymphomas, plasma cell dyscrasias, and mast cell disorders; this is followed by a discussion of the impact of red blood cell disorders including anemias and less common red blood cell dyscrasias (sickle cell disease, hemochromatosis, and congenital erythropoietic porphyria) as well as thrombocytopenia...

Neonatal hemochromatosis is a rare disease of iron metabolism, characterized by the excess accumulation of iron in the tissues. This occurs in utero and can lead to fetal demise or an infant who presents with advanced liver disease in the neonatal period. A case of neonatal hemochromatosis is reported in a 37-week infant who presented at birth with thrombocytopenia, coagulopathy, and abnormal liver imaging studies. The diagnoses of infection and metabolic errors were excluded before the confirmation of neonatal hemochromatosis was made...

This review highlights recent advances in hepatology, including new insights into the clinical penetrance of hereditary hemochromatosis, the development of non-immunosuppressive cyclosporin A analogs for the treatment of chronic hepatitis C, thrombopoietin receptor agonists for thrombocytopenia in cirrhosis, the development of vasopressin V2 receptor antagonists (vaptans) for the management of ascites and hyponatremia in portal hypertension, the description of chronic hepatitis E in immunosuppressed patients, and the development of sorafenib as the first molecularly targeted therapy with a demonstrated benefit in the treatment of advanced hepatocellular carcinoma...

We describe, to our knowledge, the first case of progressive neonatal liver failure due to neonatal haemochromatosis (NH) occurring in an infant with a gastroschisis and review the literature regarding these two conditions. A 1,665 g male infant with antenatally diagnosed gastroschisis was born with a severe coagulopathy, anaemia, thrombocytopenia, hypoglycaemia and jaundice. He developed progressive liver failure, complicated by necrotising enterocolitis. Serum ferritin was elevated at 1,459 microg/L. He died on day 40 and a limited post-mortem examination confirmed significant hepatic siderosis with fibrosis and cholestasis, and siderosis of the pancreas...

BACKGROUND & AIMS: The liver plays a central role in vitamin D metabolism. Our aim was to determine the prevalence and type of vitamin D-parathyroid hormone (PTH) disturbance in ambulatory patients with noncholestatic chronic liver disease (CLD) and its relationship with disease severity and liver function. METHODS: We studied 100 consecutive outpatients (63 men, 37 women; mean age, 49.0 +/- 12.1 [SD] y) with noncholestatic CLD caused by alcohol (n = 40), hepatitis C (n = 38), hepatitis B (n = 12), autoimmune hepatitis (n = 4), hemochromatosis (n = 4), and nonalcoholic steatohepatitis (n = 2); 51 patients had cirrhosis...

Presentation of Case. A four-week-old male infant was admitted to this hospital because of jaundice, hyperbilirubinemia, thrombocytopenia, and abdominal distention. The patient was born at term at another hospital by spontaneous vaginal delivery to a 37-year-old woman (gravida 2, para 2) after an..

HISTORY: A 28 year young female presented to our hospital for further evaluation with recently diagnosed diabetes mellitus, hyperpigmentation of the skin, hepato- and splenomegaly, thrombocytopenia and an elevated transferrin saturation (96 %), but a negative test for HFE gene mutations such as C282Y and H63D. FINDINGS: Using the mini-laparascopic technique we diagnosed a smallnodular liver cirrhosis with an iron overload. DIAGNOSIS AND TREATMENT: This is the clinical presentation of one subtype of the so called Non-HFE-hemochromatosis, the juvenile hemochromatosis (HFE2)...

A 69-yr-old male with a history of familial hemochromatosis and status after liver transplantation was found to have severe thrombocytopenia (platelet count of 8000/microL). He was also anemic and was diagnosed with acute myeloid leukemia (AML) after a bone marrow biopsy. He was started on gemtuzumab ozogamicin (Mylotarg) and developed hepatic and multiorgan failure consistent with veno-occlusive disease within 2 wk. He did not have a history of hematopoietic stem cell transplantation, which is usually the case in AML patients who develop veno-occlusive disease of the liver after treatment with Mylotarg...

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