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]

• 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]

• 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]

• Frontal Bossing

  Craniofacial changes associated with Thalassemia Major Frontal bossing Maxillary overgrowth Micrognathia T/F: There is growth stunting in Thalassemia Major patients. [brainscape.com]

  In addition, they present frequently complications of severe hemolysis, including anemia, splenomegaly, growth retardation, frontal bossing, and early gallbladder disease [ 1 ]. [casesjournal.biomedcentral.com]

An array of laboratory tests are available for detecting hemolysis, and specialized tests may be indicated to diagnose the cause for hemolysis (see Workup ). [emedicine.medscape.com]

• 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]

Early phenobarbital treatment may prevent the development of cholelithiasis in patients with chronic hemolysis. [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]

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]

Prognosis The prognosis for patients with hemolytic anemia depends on the underlying cause. Overall, mortality rates are low in hemolytic anemias. However, the risk is greater in older patients and patients with cardiovascular impairment. [emedicine.medscape.com]

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]

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]

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]

Epidemiology Hemolytic anemia represents approximately 5% of all anemias. Acute AIHA is relatively rare, with an incidence of one to three cases per 100,000 population per year. [27] Hemolytic anemias are not specific to any race. [emedicine.medscape.com]

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]

To further analyze the pathophysiology of congenital hemolytic anemia by performing a case control study comparing patient parameters and healthy control parameters. [trialregister.nl]

Several physiological and pathophysiological functions of RBC-derived microvesicles have been described. [frontiersin.org]

Early phenobarbital treatment may prevent the development of cholelithiasis in patients with chronic hemolysis. [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]