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Disorders of Iron
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| Iron Related Issues
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Juvenile Hemochromatosis
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Juvenile Hemochromatosis & non-HFE related iron overload in youths
Juvenile Hemochromatosis / Iron Overload...
Newborn, infant, child, juvenile and adolescent represent different age groups. In this section newborn is defined as birth to six months of age, infant as 7-12 months, child one to five years of age, juvenile as 6 to 12 years of age; adolescent as one 13 to 17; young adult as one 18 to 30 years of age.
Definition:
Hemochromatosis is a genetic metabolic disorder where a person absorbs too much iron and can result in dangerously high accumulation of iron in vital organs such as liver, heart, joints and brain which is a condition of iron overload. When iron overload presents in someone younger than the age of thirty, it is called Juvenile hemochromatosis (JH).
At risk:
The gene responsible for juvenile hemochromatosis is located on chromosome one, where the HFE gene, which is associated with adult iron overload is located on chromosome six. HFE related iron overload typically presents at an older age, generally in the patient's thirties, forties or fifties.
Iron overload (IO) can occur in childhood, but IO in those of adolescent age or younger is likely due to the genetic variation on chromosome one or possibly another gene variation not yet identified. Some of these youths might carry an HFE variant copy as well.
Dr. June Halliday, visiting scientist at Queensland Institute of Medical Research in Australia suggests that approximately 25% of heterozygotes, those who carry the single variation of HFE, may demonstrate elevated transferrin saturation before ferritin levels are increased. These youths may also possess an undetected variant copy of chromosome one.
Dr. Clara Camaschella of University of Torino, Torino Italy and her colleagues identified the gene variation on chromosome one as a candidate gene for iron overload in youths. The youths in Dr. Camaschella's study did not have the HFE gene variations, but demonstrated high serum ferritin and elevated transferrin iron saturation percentage as a child or juvenile and required therapeutic phlebotomy treatment.
US investigators Barton, Rao, Pereira, Gelbart, Beutler, Rivers, and Acton identified seven US children of two different families who presented with iron overload before the age of twenty. The families were from the southeastern region (the Carolinas) of the US, where there is a higher prevalence of iron overload disease. According to their findings, six of the seven patients had sex organ dysfunction, two had severe heart involvement, seven had liver involvement, two had cirrhosis, and five had increased darkening of the skin. Two of four siblings with JH also had Hashimoto thyroiditis (hypothyroidism). One patient had severe congestive heart failure, which improved with phlebotomy and a permanent pacemaker.
All of these children had variant copies of the gene for juvenile hemochromatosis (chromosome one). Only one child had a copy of the HFE gene variation H63D.
Neonatal hemochromatosis is a rare condition, also not HFE related, where offspring rarely reach full term or do not survive beyond a few weeks after birth, though, there are documented cases of survival.
Iron levels fluctuate dramatically in young children, especially newborns. Where adult ranges for serum ferritin are 25 to 300ng/mL (males), 25-200ng/mL (females) and saturation percentage is 25-35%, in newborns and infants these numbers are much higher. These elevated levels are normal in infants, as these children are preparing for a growth spurt and need a vast amount of iron to accommodate the growth.
Any child in a high risk family or those of Scots-Irish, Northern European, or Hispanic descent.
Any child whose blood relatives have been diagnosed with hereditary hemochromatosis/iron overload.
Because so much uncertainly surrounds the issue of iron overload in children, juveniles and adolescents, symptoms and family history of hemochromatosis/iron overload, cancer, heart disease, diabetes, depression, cirrhosis, arthritis, or impotence are key to investigation and early detection.
Symptoms of iron loading can include:
- chronic fatigue
- dramatic weight loss (or weight gain)
- heart arrhythmia
- joint pain-especially in middle two fingers of the hand
- skin discoloration
- amenorrhea (reduction or stoppage of menstrual cycle)
- depression (moodiness)
- upper right-quadrant abdominal pain
If you lay your hand below your ribcage on the right side of your body, this is the general location of the liver. Pain in this area can mean liver is inflamed. Pain on the other side and down a bit can mean the spleen is enlarged which can occur with infection.
Findings such as elevated blood sugar, abnormal levels of thyroid hormone, liver enzymes, might be an indication of iron loading condition. Both diabetes and arthritis are symptoms that manifest in adults because of damage done by excess iron. When these diseases are diagnosed in youths, it seems prudent to check iron level.
Determining iron levels in youths may be accomplished by measuring serum ferritin and transferrin iron saturation percentage. These tests need to be done fasting, that is, nothing by mouth (except water) after midnight and prior to testing.
An iron loading condition may be suspect if tests reveal an elevated ferritin with an accompanying elevated transferrin iron saturation percentage above 45%. Ferritin ranges differ by age and gender; see table below for normal ranges:
Male 10-19 year old 23-70 ng/mL
Female 10-19 year old 6-40 ng/mL
Child 6-9 year old 10-55 ng/mL
Child 1-5 year old 6-24 ng/mL
Infant 7-12 mos 60-80ng/mL
Newborn: 1-6 mos 6-410 ng/mL
Newborn: 1-30 days 6-400 ng/mL
Note: transferrin iron saturation percentage can be as high as 90% in a newborn or infant. Contact Iron Disorders Institute for a copy of : "Transferrin iron saturation percentage, different in Newborns" idInsight Second Quarter 1999
Transferrin iron saturation percentage can also be high in youths who drink a great number of soft drinks or high-sugar content juices. When tests reveal high TIS% but near normal range ferritin, a pediatrician might direct a youth to discontinue or cut down on consumption of soft drinks/juices and consume more water for a period of thrity days. Retesting ferritin and TIS% after this trial period might reveal lowered TIS% and normal ferritin.
Other Tests Your Pediatrician or Family Doctor may Wish to Perform
Symptoms, age, family history, and gender will drive the diagnostic (testing) process. If your adolescent is demonstrating symptoms related to sexual dysfunction or has stopped menstruating, LH (luteinizing hormone), FSH (follicle stimulating hormone), TSH (thyroid stimulating hormone) and testosterone might be measured. If symptoms related to sugar imbalance are present glucose (HbA1C) might be done. If heart arrhythmia is present an EKG or possibly an echocardiogram might be performed. Because the liver is believed to be the first organ damaged by excessive iron accumulation, liver enzymes, especially ALT may be measured. AST, GGT and ALP are other liver enzyme tests that may be ordered by your doctor.
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