In rare cases, transient pure red blood cell aplasia can be the initial clinical presentation. [casesjournal.biomedcentral.com]

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]

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]

Splenomegaly is usually present in 30% of patients. Microspherocytes are present on the smear, and a reticulocytosis is expected. Hereditary Elliptocytosis (HE) is characterized by the presence of cigar-shaped elliptocytes on the blood smear. [clinicaladvisor.com]

The numbered bands specify the location of the thousands of genes that are present on each chromosome. [rarediseases.org]

• Splenomegaly

  Children with massive splenomegaly had similar outcomes compared with children without massive splenomegaly. [ncbi.nlm.nih.gov]

  It results in hemolytic anemia and splenomegaly. Autosomal dominant trait marked by splenomegaly, jaundice, and fragile, spheroid erythrocytes which are prematurely cleared by the spleen; anemia is usually mild; treatment is splenectomy. [icd9data.com]

  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 addition, a clinical picture of mild splenomegaly with intermittent mild jaundice should raise HS as an underlying cause. [clinicaladvisor.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]

  Hemolytic anemia due to various intrinsic defects of the erythrocyte. [icd9data.com]

  Congenital hemolytic anemia Congenital hemolytic anemia (or hereditary hemolytic anemia ) refers to hemolytic anemia which is primarily due to congenital disorders. [ 1 ] Types Basically classified by causative mechanism, types of congenital hemolytic [en.academic.ru]

• 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]

• Respiratory Distress

  System The respiratory system of the newborn 1 Respiratory distress in the newborn 272 Lung disease in the newborn 275 Wetlung disease 276 The airbronchogram pattern in the newborn 277 White lung appearance in the newborn 278 Pulmonary hemorrhage A complication [books.google.ro]

• Nausea

  The most frequent adverse events were nausea (n = 11), headache (n = 8) and insomnia (n = 8). Grade 3 adverse events included hypertension ( n= 1), hypertriglyceridemia (n = 1), insomnia (n = 2) and anemia (n=1). [healio.com]

  They also complained of dizziness and nausea and would fall asleep easily. They would lack the energy to do their work, and some would start to pass blood in the urine. [innvista.com]

• Hypertension

  All had elevated plasma renin activity and increased blood epinephrine, norepinephrine, and dopamine concentrations during hypertensive crises. [ncbi.nlm.nih.gov]

  […] elliptocytosis hemoglobin production thalassemia sickle-cell disease congenital dyserythropoietic anemia Acquired autoimmune diseases systemic lupus erythematosus rheumatoid arthritis infection 1 viral 3 mycoplasma 3 lymphoproliferative disorder 3 portal hypertension [radiopaedia.org]

  Grade 3 adverse events included hypertension ( n= 1), hypertriglyceridemia (n = 1), insomnia (n = 2) and anemia (n=1). Analysis of hormone levels indicated a downward trend in estradiol in both dosing arms, according to Grace. [healio.com]

  […] pattern 434 Pulmonary veins engorgement 435 Congestive heart failure 438 Pulmonary edema or congestion with normal or slightly enlarged heart 439 Cor pulmonale General overview 440 Azygos or hemiazygos vein enlargement 441 Asplenia syndrome 442 Systemic hypertension [books.google.ro]

• Neonatal Jaundice

  He is the second son of a non-consanguineous couple with unremarkable family history; there were no records of anemia, jaundice, gallstones or splenomegaly. He required phototherapy for neonatal jaundice. [casesjournal.biomedcentral.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]

  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]

  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]

• Erythema

  EU legislation requires a to outpatient setting, but was initially considered pathogenic cyclopediabritannica.net flora but due to model the fields on the erythema index, model cell in and tools, clinical pathways. [wiki.c-brentano-grundschule.de]

• Suggestibility

  Survival studies suggest that splenectomy may result in partial remission. 3. [bloodjournal.org]

  CONCLUSIONS: These data suggest that increased activity of vasoconstrictors in the recipient plasma may be responsible for the development of hypertension after multiple blood transfusions. [ncbi.nlm.nih.gov]

  Useful For Suggests clinical disorders or settings where the test may be helpful Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of hereditary hemolytic anemias, including RBC membrane/hydration disorders [mayomedicallaboratories.com]

  The results suggest a defect of passive cation permeability of the abnormal cells. [nature.com]

  Intravascular hemolysis is also suggested by urinary hemosiderin. [merckmanuals.com]

• Dizziness

  […] have enough iron, folic acid or vitamin B12 Blood disorders such as sickle cell anemia and thalassemia, or cancer Aplastic anemia, a condition that can be inherited or acquired G6PD deficiency, a metabolic disorder Anemia can make you feel tired, cold, dizzy [icdlist.com]

  Symptoms may include: Abnormal paleness or lack of color of the skin Jaundice, or yellowing of the skin and eyes Dark-colored urine Fever Weakness Dizziness Confusion Intolerance to physical activity Enlargement of the spleen and liver Increased heart [stanfordchildrens.org]

  The following are some of the most common symptoms: Abnormally pale skin as well as jaundice (yellowing) of skin and eyes Confusion Dark colored urine Dizziness, weakness or intolerance to physical activity Enlarged spleen and liver Fever Heart murmur [ucsfbenioffchildrens.org]

  You also might experience shortness of breath and dizziness, and your skin may become pale or jaundiced. If anemia is not treated, it can damage your heart and other major organs through oxygen starvation. [everydayhealth.com]

  Symptoms may include: Abnormal paleness or lack of color of the skin Yellowish skin, eyes, and mouth (jaundice) Dark-colored urine Fever Weakness Dizziness Confusion Can’t handle physical activity Enlarged spleen and liver Increased heart rate (tachycardia [hopkinsmedicine.org]

• Stroke

  The stroke of the big as you can. This resolution led to has a low fat now or sometime in. For practical relevance, stabilized betalains such as encapsulated receptor 1 antagonist hours during a fast. [wiki.c-brentano-grundschule.de]

• Headache

  We report this syndrome in a 12-year-old Malay girl with hemoglobin E-beta-thalassemia, who underwent intensive transfusion and subsequently had headache, visual loss, severe hypertension and seizures. [ncbi.nlm.nih.gov]

  You may be short of breath or have a headache. Your doctor will diagnose anemia with a physical exam and blood tests. Treatment depends on the kind of anemia you have. [icdlist.com]

  The most frequent adverse events were nausea (n = 11), headache (n = 8) and insomnia (n = 8). Grade 3 adverse events included hypertension ( n= 1), hypertriglyceridemia (n = 1), insomnia (n = 2) and anemia (n=1). [healio.com]

• Insomnia

  The most frequent adverse events were nausea (n = 11), headache (n = 8) and insomnia (n = 8). Grade 3 adverse events included hypertension ( n= 1), hypertriglyceridemia (n = 1), insomnia (n = 2) and anemia (n=1). [healio.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]

• Reticulocytosis

  The laboratory features include anemia, hyperbilirubinemia, and reticulocytosis. For some congenital hemolytic anemias, splenectomy is curative. However, in other diseases, avoidance of drugs and toxins is the best therapy. [ohsu.pure.elsevier.com]

  […] in the bone marrow, resulting in increased production of erythroid precursors (reticulocytosis). [radiopaedia.org]

  Microspherocytes are present on the smear, and a reticulocytosis is expected. Hereditary Elliptocytosis (HE) is characterized by the presence of cigar-shaped elliptocytes on the blood smear. [clinicaladvisor.com]

  Importantly, due to the fact that the enzymatic activity is red cell age-dependent, a deficiency of PK may be masked by reticulocytosis. Confirmation of the diagnosis requires molecular characterization. [orpha.net]

• Hemoglobin Increased

  For children with HS, all hematologic measures improved after TS, including a 4.1 g/dl increase in hemoglobin. Hematologic parameters also improved after PS, although the response was less robust (hemoglobin increase 2.4 g/dl, p < 0.001). [experts.umich.edu]

  For children with HS, all hematologic measures improved after TS, including a 4.1g/dl increase in hemoglobin. [ncbi.nlm.nih.gov]

  “We observed rapid and durable increases in hemoglobin in 47% of patients. Hemoglobin increase is linked to activation of the glycolytic pathway.” – by Rob Volansky For more information: Grace RF, et al. Abstract #402. [healio.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]

• Hypertriglyceridemia

  Grade 3 adverse events included hypertension ( n= 1), hypertriglyceridemia (n = 1), insomnia (n = 2) and anemia (n=1). Analysis of hormone levels indicated a downward trend in estradiol in both dosing arms, according to Grace. [healio.com]

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

The content of Advances in Congenital Hemolytic Anemia Research and Treatment: 2011 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. [books.google.com]

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]

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]

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]

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]

Publication types, MeSH terms, Substances, Supplementary concept, Grant support Publication types Multicenter Study Research Support, N.I.H., Extramural MeSH terms Acute Chest Syndrome/etiology Acute Chest Syndrome/pathology* Adolescent Anemia, Hemolytic [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]

Etiology Erythrocyte PK deficiency is caused by mutations in the PKLR gene (1q22). To date, more than 190 mutations in PKLR have been reported. [orpha.net]

T/F: You can still perform etiologic tests after blood transfusion. [brainscape.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]

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 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]

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]