Hereditary spherocytosis

Hereditary spherocytosis: Description, Causes and Risk Factors: ICD-10: D58.0 Alternative Name: Spherocytic anemia, chronic familial icterus, congenital hemolytic icterus, chronic acholuric jaundice, chronic familial jaundice, congenital hemolytic jaundice. Abbreviation: HS. Hereditary spherocytosisHereditary spherocytosis (HS) is by far the most common congenital hemolytic anemia in northern European descendants. The hallmarks of the disease are anemia, intermittent jaundice (from hemolysis or biliary obstruction), and splenomegaly. Spherocytes are devoid of the normal surface surplus and rigid. They are trapped during their passage through the metabolically unfavorable splenic pulp and selectively destroyed. HS occurs in all ethnic groups. The highest frequency of 1:5,000 is found in Northern European countries. De novo mutations of ankyrin or other membrane protein genes are a frequent cause of sporadic HS. In about two thirds of patients, the disease is inherited in a dominant pattern and can be followed from generation to generation, mostly with the same severity. The others are assumed to be due to recessive genes. If this assumption is correct, about 1% of the population carries recessive HS genes. One asymptomatic parent may carry a germline mosaicism for an ankyrin mutation or ?-spectrin. De novo mutations of ankyrin or ?-spectrin genes can arise in one of the parental germ lines and be transmitted dominantly. Parental mosaicism also occurs and must be considered in genetic counseling. The inheritance of HS is truly recessive in only about 10% to 15% of families. In these cases, both parents have minor signs of the disease — usually only an increased osmotic fragility in incubated blood or a slight reticulocytosis. Patients with recessive HS tend to more profound anemia, but clinical severity varies greatly. HS is due to mutations at different chromosome loci. Two genetic loci for HS have been identi?ed by study of balanced chromosomal translocations or small deletions, and by linkage analysis. One of the loci, an interstitial deletion of chromosome 8p11.1-p21.2, eliminates the gene for ankyrin. The second locus is the gene for ?-spectrin, which resides on chromosome 14q23-q24.2. Symptoms: Patients with hereditary spherocytosis generally have a mild to moderately severe chronic hemolytic anemia.Many patients are asymptomatic, with only slightly reduced hemoglobin values, rareclinical problems, and a normal physical examination except for slight splenomegaly.Other children, however, have fatigue, decreased exercise tolerance,and episodes of more severe anemia (particularly during or following viral infections), which require monitoring and occasionally blood transfusions. Diagnosis: To check for hereditary spherocytosis, the doctor will examine your child and may feel her abdomen to see if her spleen is enlarged. Blood tests will provide the other details the doctor needs to make a diagnosis. Here are some of the things the doctor may look for in your child's blood: The level of red blood cells: This shows whether the child has anemia. The test is called a complete blood count, or CBC.
  • The percent of immature red blood cells in the blood: These are called reticulocytes. The level is higher in people with HS.
  • The shape of the red blood cells as seen under a microscope. Red blood cells that look round instead of flat are a sign of HS.
  • Coombs' test: Whether the blood contains antibodies that can destroy red blood cells.
  • The level of bilirubin and of an enzyme called LDH (lactate dehydrogenase). Both are higher in people with HS.
The osmotic fragility test is done to confirm thediagnosis of hereditary spherocytosis. Apatient's red blood cells are placed in differentconcentrations of saline solution for 24 hours.When red blood cells are placed in salinesolution, they absorb water until the cellmembrane bursts. Spherocytes do not tolerateweak saline solutions, causing them to burstsooner than normal cells. Treatment: Surgical removal of the spleen (splenectomy) is the treatment of choice for symptomatic hereditary spherocytosis and can be done when a child is five years of age or older. Treatment before the age of five consists of daily folic acid (vitamin) supplementation. Removing the spleen does not cure the disease, but it does allow the red blood cells to live longer so that a child no longer becomes anemic during periods of stress or infection and the skin and eyes do not turn yellow. After the spleen is removed, the child is at an increased risk for certain types of infection. For this reason, penicillin is given twice a day for the rest of your child's life. It is very important that your child receive all of the normal childhood immunizations and a few special immunizations (pneumococcal and meningococcal immunizations) to prevent infection. NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


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