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Congenital Hemolytic Anemia


Presentation

  • Abstract A discussion of a 5-year-old child with congenital hemolytic anemia and severe hypotonia caused by triosephosphate (TPI) deficiency is presented.[ncbi.nlm.nih.gov]
  • The typical clinical presentation is a patient with pallor, anemia, jaundice, and often splenomegaly. The laboratory features include anemia, hyperbilirubinemia, and reticulocytosis. For some congenital hemolytic anemias, splenectomy is curative.[ohsu.pure.elsevier.com]
  • In rare cases, transient pure red blood cell aplasia can be the initial clinical presentation.[casesjournal.biomedcentral.com]
  • The present study was undertaken to test the hypothesis whether increased circulating vasoconstrictors following blood transfusions, if documented, is a potent modulator of hypertension in patients with congenital anemia.[ncbi.nlm.nih.gov]
Anemia
  • The activity of erythrophagocytosis in the sinus was more distinct in patients with congenital hemolytic anemia, especially those with nonspherocytic congenital hemolytic anemia, than in patients with autoimmune hemolytic anemia.[ncbi.nlm.nih.gov]
  • Congenital hemolytic anemia refers to hemolytic anemia which is primarily due to congenital disorders.[en.wikipedia.org]
  • , Congenital/pathology Anemia, Hemolytic, Congenital/surgery* Anemia, Sickle Cell/pathology Anemia, Sickle Cell/surgery* Ankyrins/deficiency* Bilirubin/blood Child Child, Preschool Female Hemoglobins/metabolism Humans Male Postoperative Complications[ncbi.nlm.nih.gov]
  • Hemolytic Congenital, Nonspherocytic Anemia: Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte.[medconditions.net]
  • KEYWORDS: hemolytic anemia; hypertension; intracranial bleed; seizures; transfusion[ncbi.nlm.nih.gov]
Pallor
  • The typical clinical presentation is a patient with pallor, anemia, jaundice, and often splenomegaly. The laboratory features include anemia, hyperbilirubinemia, and reticulocytosis. For some congenital hemolytic anemias, splenectomy is curative.[ohsu.pure.elsevier.com]
  • Clinical triad for hemolytic anemia Pallor or anemia Jaundice Splenomegaly (except in newborn and G6PD deficient) Increase in this component in the serum and urine reflects ongoing hemolytic process Positive Coomb’s test favors diagnosis of this disease[brainscape.com]
  • Physical examination revealed intense pallor, a runny nose and bilateral cervical lymph node enlargement. He had no jaundice.[casesjournal.biomedcentral.com]
  • Cooley's disease is characterized by a clinic of severe progressive hemolytic anemia, which is detected by the end of the first year of life, which leads to a lag in the mental and physical development of the child, signs of "mongoloid" appear, severe pallor[en.medicine-guidebook.com]
Neonatal Jaundice
  • He required phototherapy for neonatal jaundice. Laboratory studies (Table 1 ) showed severe microcytic and hypochromic anemia with reticulocytopenia, a normal white blood cell count and thrombocytosis.[casesjournal.biomedcentral.com]
  • The clinical picture of PK deficiency is variable, from hydrops fetalis to neonatal jaundice and anemia. 3 In our patient jaundice and anemia was present. In patients with kernicterus sometimes exchange transfusion is advised.[medcraveonline.com]
  • Hemolysis Splenomegaly Neonatal jaundice[cram.com]
  • Clinical description Clinically, PK-deficient patients suffer from a highly variable degree of chronic hemolysis, ranging from severe neonatal jaundice and fatal anemia at birth, severe transfusion-dependent chronic hemolysis, moderate hemolysis with[orpha.net]
  • Neonatal jaundice is common in the first 2 days of life in patients with HS and the hyperbilirubinemia can be severe enough to require exchange transfusion.[clinicaladvisor.com]

Workup

Thrombocytosis
  • Sulfhemoglobinemia · Reticulocytopenia Coagulation / coagulopathy Hyper- coagulability primary: Antithrombin III deficiency · Protein C deficiency / Activated protein C resistance / Protein S deficiency / Factor V Leiden · Hyperprothrombinemia acquired: Thrombocytosis[en.academic.ru]
  • Laboratory studies (Table 1 ) showed severe microcytic and hypochromic anemia with reticulocytopenia, a normal white blood cell count and thrombocytosis. Peripheral blood smear (PBS) showed anisocytosis and some cigar-shaped cells.[casesjournal.biomedcentral.com]
Hematocrit Decreased
  • After partial splenectomy, children overall had decreased transfusion requirements, increased hematocrits, decreased bilirubin levels, decreased reticulocyte counts, and elimination of splenic sequestration.[ncbi.nlm.nih.gov]

Treatment

  • Early phenobarbital treatment may prevent the development of cholelithiasis in patients with chronic hemolysis.[ncbi.nlm.nih.gov]
  • Abstract Partial splenectomy is an alternative to total splenectomy for the treatment of congenital hemolytic anemias (CHAs) in children, although the feasibility of this technique in the setting of massive splenomegaly is unknown.[ncbi.nlm.nih.gov]
  • Microcytosis Hypochromia Target cells Heinz bodies What's the treatment for thalassemias? Chronic transfusions Folic acid supplementation BOne marrow treatment What complications result from chronically transfusing people? Iron overload![cram.com]
  • If your child has been diagnosed with hemolytic anemia, talk to your child’s doctor and specialists about the most current treatment options.[diseaseinfosearch.org]
  • Splenectomy increases the life span of red blood cells, decreased transfusion requirements, and is the first-line treatment in some hematologic diseases.[umbalk.org]

Prognosis

  • Comparison of sixty-six patients with thalassemia major and thirteen patients with thalassemia intermedia including evaluations of growth, development and prognosis. Ann Ny Acad Sci. 1964;7:727-35. Hazell JW, Modell CB.[ijpediatrics.com]
  • Prognosis Prognosis is variable depending on the severity of the anemia, but as in other chronic hemolytic disorders, gallstones and iron overload may develop, requiring appropriate treatment.[orpha.net]
  • The prognosis (outlook) after splenectomy is for a normal life and a normal life expectancy.[medicinenet.com]
  • Treatments and Prognosis for Hemolytic Anemia Doctors who treat hemolytic anemia will first focus on returning the patient's red blood cell count to as close to normal as possible and halting or slowing the destruction of red blood cells.[everydayhealth.com]

Etiology

  • ., Extramural MeSH terms Acute Chest Syndrome/etiology Acute Chest Syndrome/pathology* Adolescent Anemia, Hemolytic, Congenital/pathology Anemia, Hemolytic, Congenital/surgery* Anemia, Sickle Cell/pathology Anemia, Sickle Cell/surgery* Ankyrins/deficiency[ncbi.nlm.nih.gov]
  • The etiology of inherited anemia accounts for germline mutations of the responsible genes coding for the structural components of erythrocytes and extra-erythrocytes.[ncbi.nlm.nih.gov]
  • ETIOLOGY Hemolytic anemias are often noted in the neonatal period, and they can be caused by various factors, internal and external to red blood cells. Hemolysis can be caused by three main groups of causes: Acquired hemolytic anemia 1.[en.medicine-guidebook.com]
  • T/F: You can still perform etiologic tests after blood transfusion.[brainscape.com]
  • The etiology of pure red cell aplasia is diverse, with parvovirus being the most common cause [ 1, 5 ].[casesjournal.biomedcentral.com]

Epidemiology

  • An epidemiological study on the clinico-hematological profile of patients with congenital hemolytic anemia in a tertiary care hospital of Kolkata. Indian J Prev Soc Med. 2012;43(4):1-6. Angastiniotis M, Modell B, Englezos P, Boulyjenkov V.[ijpediatrics.com]
  • Summary Epidemiology PK deficiency is the most frequent cause of congenital nonspherocytic hemolytic anemia with a prevalence estimated at 1/20,000 in the general white population.[orpha.net]
Sex distribution
Age distribution

Pathophysiology

  • PATHOPHYSIOLOGY The primary function of RBCs is to transport oxygen from the lungs to the tissues. The normal RBC circulates within the vascular system for about 120 days.[hw-f5-pedsinreview.highwire.org]
  • Pathophysiology: Extravascular Versus Intravascular Hemolysis HA may be defined as increased destruction of red blood cells (RBCs). RBCs are cleared from the circulation via extravascular or intravascular mechanisms (Figure).[pedsinreview.aappublications.org]
  • To further analyze the pathophysiology of congenital hemolytic anemia by performing a case control study comparing patient parameters and healthy control parameters.[trialregister.nl]
  • Pathophysiology There are two mechanisms of hemolysis. Intravascular hemolysis is the destruction of red blood cells in the circulation with the release of cell contents into the plasma.[aafp.org]

Prevention

  • Early phenobarbital treatment may prevent the development of cholelithiasis in patients with chronic hemolysis.[ncbi.nlm.nih.gov]
  • A less-intensive transfusion regimen among patients with chronic hemolytic anemia and prompt detection and management of hypertension may prevent this potentially fatal syndrome. The Author [2014]. Published by Oxford University Press.[ncbi.nlm.nih.gov]
  • Fulminant infection after splenectomy syndrome is caused mainly by Streptococcus pneumoniae, Haemophilus influenzae and Neisseria meningitidis, which can be prevented by vaccination and antibiotic prophylaxis preoperatively. Full text sources[umbalk.org]
  • Prevention and control of hemoglobinopathies. Bull World Health Organ. 1995;73(3):375-86. Balgir RS. The genetic burden of hemoglobinopathies with special reference to community health in India and the challenges ahead.[ijpediatrics.com]

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