Hemostasis Thrombosis and Anemic Syndromes

Potential Causes of Anemia in Hepatic Cirrhosis

RAZVAN JUGANARU — 2023-11-10

The article looks at the basic mechanisms of anemia in patients with liver cirrhosis (bleeding through esophageal varices, hemorrhoids, vascular fragility, hypertensive portal gastropathy, thrombocytopenia, coagulopathy, vitamin K deficiency, splenic rupture, splenic sequestration of red blood cells in splenomegaly) and also the additional mechanisms of anemia in liver cirrhosis (erythropoietin deficiency, renal injury, chronic inflammation, deficiency of trace elements and vitamins, autoimmune hemolytic anemia, microangiopathic hemolytic anemia, Zieve syndrome). Depending on the Child-Pugh staging of liver cirrhosis, as well as the associated pathologies of the patient with liver cirrhosis, it is possible that there are simultaneously several ways of the appearance of anemia. It is an attempt to achieve more than a simple review of them in a tabular form, focusing not only on physiopathology, but also on diagnostic and therapeutic elements - the latter being briefly mentioned in widely known situations and presented in more detail in the context of the rarer causes of anemia in patients with liver cirrhosis. In conclusion, the differential and positive diagnosis of anemia in liver cirrhosis decisively influences the therapeutic decision and, of course, not only survival, but also the patient's quality of life. Interdisciplinary collaboration (family doctor, gastroenterologist, internist, infectious disease specialist, hematologist, surgeon, ICA, medical imaging, laboratory) is the optimal way to a diagnosis and targeted treatment of the causes of anemia in liver cirrhosis.

Prenatal Diagnosis of Thalassemia

Oltean Vlad-Ioan — 2023-11-10

Thalassemia is a group of inherited blood disorders that affect the production of hemoglobin. The main components of hemoglobin consist of heme and globin (α-globin and β-globin). Thalassemia occurs when there is a mutation in the genes responsible for producing these globin chains, leading to an abnormal or insufficient production of one or both types of globin. Depending on the affected globin genes, α- and β-thalassemias can be identified. Depending on the genotype, the clinical presentation of the patient can vary from asymptomatic to severe and also lethal courses. The main and also leading symptom is microcytic hypochromic anemia. Without a treatment, increased erythropoiesis can induce extramedullary hematopoiesis, hepatosplenomegaly and growth disturbances.

In the context of α-thalassemias distinctions are made among the minor and minima form (expressed by few symptoms), HbH disease (manifesting mild to moderate symptoms) and Hb Barts hydrops fetalis syndrome (showing severe symptoms and also often resulting in perinatal death). The choice of treatment depends on the specific clinical presentation and closely mirrors the approach taken for β-thalassemias.

In the case of β-thalassemias, a differentiation is made between the minor form (also with few symptoms), and the homozygous major form. Without a treatment the latter leads to severe outcomes in childhood. The symptomatic therapy involves transfusions and efforts are made to mitigate the life-limiting complications of secondary iron overload by administering iron chelators (e.g. Deferoxamine). Causal therapy is possible through a stem cell transplant, or experimentally through gene therapy.

Congenital dyserythropoietic anemia

Andreea Tudor — 2023-11-10

Congenital dyserythropoietic anemia (CDA) is a rare inherited hematological disorder characterized by impared erythroblast maturation, leading to anemia. An overview of CDA with an emphasis on its molecular underpinnings, clinical characteristics and manifestations are provided in this article.
Mutations in crucial genes for erythroid differentiation, which affect nuclear morphology and hemoglobin production, are part of the pathopshysiology of CDA. Jaundice, hepatosplenomegaly and anemia are a few examples of the clinical symptoms. Genetic test and bone marrow analysis are used for diagnosis.

Hemophilia C in Women

Danka Elena Sobco — 2023-11-10

Factor XI (FXI) deficiency (hemophilia C or Rosenthal syndrome) is a genetically-transmitted disease usually inherited in an autosomal recessive pattern associated with genetic defects in the FXI gene. It affects both genders equally, but studies show that the disorder is more common in Ashkenazi Jews. People with hemophilia C do not have spontaneous bleeding, symptoms like uncontrollable or prolonged bleeding, epistaxis, hematuria or bruising occur after serious injuries, major surgeries or after giving birth. In female it may cause menorrhagia. Unless there’s an undergoing surgery or an injury that may cause severe bleeding, people with hemophilia C do not require treatment. Fresh frozen plasma, anticoagulant medication or birth control might reduce the risk of excessive bleeding.¹

Therapeutic trends and perspectives in Diamond Blackfan anemia

Maria - Teodora Vulpe — 2023-11-10

Blackfan Diamond anemia is a rare clinical entity caused by mutations in genes encoding ribosomal proteins.

Erythrogenesis defects, somatic malformations, and increased risk of developing hematological malignancies or solid tumors place the affected pediatric population in the focus of specialists.

While classical approaches such as blood transfusions and stem cell transplantation aim to relieve anemia and correct bone marrow dysfunction, therapeutic strategies based on L-Leucine, Sotatercept, Trifluoperazine, SMER28, and Eltrombopag seek to improve the production of erythroid precursors.

Even if in its nascent stages, therapeutic directions focused on processing genetic material aim to remedy abnormal gene expression.

This literature review aims to highlight treatments used to improve blood-forming function and therapeutic prospects that could increase the life expectancy of patients with Diamond Blackfan anemia.

Deficitul de fier şi anemia în insuficienţa cardiacă

Ana Maria Vlădăreanu — 2023-11-10

Sindromul complex al insuficienţei cardiace are faţete multiple, etiologice, patogenice, clinice şi evolutive. În evoluţia pe termen lung (clinică) se asociază cu multiple tipuri de comorbidităţi, care au impact pe morbiditate, calitatea vieţii şi mortalitate.

Deficitul de fier şi anemia în insuficienţa cardiacă (IC) a devenit un subiect major de cercetare complexă în ultimii 10-15 ani. Studiile epidemiologice au semnalat (demonstrat) că deficitul de fier se întâlneşte la aprox. 50% din pacienţii cu IC şi FE redusă şi că este independent asociat cu scăderea capacităţii funcţionale, calitatea vieţii şi creşterea mortalităţii (1). La pacienţii cu IC acută (sau decompensată acut) deficitul de fier s-ar întâlni până la 80%. Studiile au mai semnalat că deficitul de fier se poate însoţi sau nu de anemie, iar administrarea unor preparate de fier i.v. corectează anemia, restabileşte valorile sideremiei şi ameliorează simptomele şi capacitatea de efort la pacienţii cu IC şi FE redusă (2).