Children HHelping Children

Screening & Awareness Projects

Children HHelping Children Screening & Awareness Project ~~Can Your Child Help?? This project was instituted on April 1, 1998. Does your child have the gene mutation for hereditary hemochromatosis? Is your child clinically iron overloaded? If so, your child is invited to participate in an important study of iron overload in children. This study will examine how having the HH gene mutations can affect children during childhood. The children who are heterozygous, homozygous or compound heterzygous for HH by DNA PCR testing will be followed throughout their childhood years to see if and when iron storage occurs during their childhood through regular monitoring with appropriate biochemical testing (transferrin saturation and serum ferritin). Please contact project founder, Sandra Thomas, for more information on how to participate at Sandra.Thomas@americanhs.org

If you have hemochromatosis, your children or grandchildren may also iron overload. It should be ruled out with the proper bloodwork. Many hemochromatosis patients’ doctors and their children’s pediatricians are telling families with a history of hemochromatosis that minor children cannot be affected by hemochromatosis or that if they will be affected, it will not happen until the children are adults and in their 30’s or 40’s. This simply is not true and gives the parents of young children a false sense of security and confidence and also puts the children at risk of loading iron during their childhood without treatment! Young children can and do get hemochromatosis, full blown hemochromatosis, requiring phlebotomy treatment. They need to be screened not only with the traditional blood work (transferrin saturation and serum ferritin) but also with the new DNA genetic test commercially available now through various labs across the country (see Labs which perform DNA testing for HH on this web page or email Sandra Thomas at mail@americanhs.org). Never before has such technology in the form of a genetic test been possible or available to the public but this is your chance to take advantage of such technology and find out the degree of risk (single or double gene mutation for hemochromatosis) that your child has for currently having, or developing at some time during his or her lifetime, (childhood or adulthood) the genetic disease known as hereditary hemochromatosis.

I have founded a new project, Children HHelping Children, which will be a national screening project for children who have the HH mutation(s) and are clinically iron overloaded. I have found 17 such children ranging in the ages of 5 to 17 years old. This project will also serve to increase awareness of pediatric hereditary hemochromatosis in children for both parents as well as physicians and bring these families together for support.

If you have not had the young members of your family screened with transferrin saturation, serum ferritin and the new DNA test for HH, please test them and make sure you get copies of their medical records for your home medical files. If your children have iron overload, we can put you in touch with other parents and children with this same condition who would like to correspond with you via email. You are not alone! We can also put you in touch with physicians who have experience treating young children with HH.

We are gathering physicians around the country and world who are interested in this area of medicine and welcome the input and experiences of physicians with pediatric patients with iron overload/HH.

Finally, the children who become part of this project, will be helping countless children in the future Children HHelping Children who will have iron overload, by paving the way with knowledge about HH in children. There is not a lot of literature on this topic, but with new children being diagnosed and willing to be part of case studies, more literature will become available to those doctors who are eager to learn more about this area of medicine and who screen their pediatric patients for iron overload, hereditary hemochromatosis!

You may also donate to the Children HHelping Children Project by going to our secure donation page at: www.americanhs.org/donations.htm

Sandra Thomas, President/Founder

American Hemochromatosis Society, Inc.

mail@americanhs.org

www.americanhs.org

The following articles are from various sources but related to the topic of HH in children.

Hemochromatosis in Children- From the Canadian Hemochromatosis Society:

Screening Young Children

Regarding serial investigation of children in an HH family, it was suggested in the first brochure produced for our Society many years ago and based upon medical literature available at the time, that such children should be tested regularly from the age of eighteen. There was some disbelief when acting upon more recent research – and following the example of Professor Leslie Valberg, then Dean of Medicine at the University of Western Ontario – the age was lowered to twelve, as stated in our current brochure. A strong case for further lowering of the accepted screening age was made in the book “The Bronze Killer”(vi), published in 1988, when the diagnosis of three Vancouver children (two sisters and a brother), aged 3, 5 and 7, was given in support of the belief that HH could no longer be regarded as an adult disease. The 7 – year old had already sustained some liver damage and the children were on phlebotomy therapy.

It is now the opinion of the writers of a report published in July 1992(v), that, when anyone is found to be suffering from HH, all first-degree relatives over the age of FOUR should be screened. In fact, the writers go on to say, “A case could be made for the screening of all white children, given the frequency of the hemochromatosis gene in Caucasians.”

The best screening test for children is still the serum transferrin saturation percentage which is derived from the “iron profile” and which can be requested by your family doctor. If children manifest any suspicious signs – such as diabetes etc, – that should alert the doctor, but most young people should not yet be affected in any way. The reason for early screening is simply to PREVENT possible organ damage if the child is left to become overloaded with iron. To date 29 asymptomatic (not yet showing any signs) young patients have been found, with an age range of 2 to 19 years of age, and there is no reason why these children should ever develop symptoms if they are monitored.

It is not necessary for parents to have suffered from Hemochromatosis in order for any of their children to develop the complications of the disorder. It is quite possible – and with the high gene (or “carrier”) rate in our population this may well have been the case – for them to have carried a single gene each, without ever knowing it.

To be at risk of developing the full-blown disease, it is necessary to have inherited TWO GENES; one from each parent. If each of them passed on a single-gene, it would then be possible for their children to carry double genes.

An estimated 75,000 Canadians may develop the full-blown disease, because they have both genes for this to happen. Every child of someone who has Hemochromatosis, will, in turn be a carrier and since there are probalbly 2.5 MILLION CARRIERS in Canada alone, it is not impossible for two carriers to marry….. To use one porvince as an example, it is estimated that 10,000 people in British Columbia suffer from Hemochromatosis; (i) 280,000 are carriers of the recessive gene which, if two carrers marry, will produce children who will be at risk from the disease which will cause them to accumulate iron from every conceivable source.

In 1983, the results were published of studies carried out at the Univeristy of Western Ontario (ii) which indicated that about one person in 333 was liable to develop the full-blown disease, only about 2,500 have been diagnosed.

A new survey would probably prove the existing estimate for Canada to be already outdated and studies in British Columbia and Alberta would undoubtedly change the whole concept. Every new paper prensented by researchers of the developed countries, brings proof of rising numbers. In some population groups, the gene frequency is as high as 16% – one person in 6.

All people at risk must be found and treated BEFORE IT IS TOO LATE!

(The Canadian Hemochromatosis Society/http://home.istar.ca/~chcts/screen.htm)

Screening for hemochromatosis in children of homozygotes: prevalence and cost-effectiveness.

Abstract: Although hereditary hemochromatosis is an autosomal recessive disease, most homozygotes are concerned with the genetic implications for their children. The optimal age for testing children and the cost implications of screening their children have not been clearly established. A clinical database consisting of 255 children from families with at least one homozygote is used to assess the prevalence of homozygotes among children of homozygous parents and to review the biochemical abnormalities and life-threatening symptoms in these young adults. Decision analysis is used to estimate the cost and utility of screening children of a homozygous parent. Eleven homozygotes were discovered among children of homozygotes. Only one male had a life-threatening event, cirrhosis. Decision analysis estimated cost saving of $12 per child screened ($ net present value) and a saving of 10 quality-adjusted days per child screened at age 10 years compared with not screening. If screening began at age 20 years, there is a cost saving of $65 per child screened. Sensitivity analysis showed that the major factors influencing cost savings were the cost of venesections, sensitivity and specificity of the screening tests, and prevalence of disease. Because the prevalence of hemochromatosis is higher in children of homozygotes than in the general population, screening with transferrin saturation and ferritin as early as age 10 years is recommended. Savings are augmented if the cost per venesection is eliminated by allowing hemochromatosis patients to become voluntary blood donors. Author: Adams PC; Kertesz AE; Valberg LS Address: Department of Medicine, University Hospital, University of Western; Ontario, London, Canada. Abbreviated Journal Title: Hepatology Date Of Publication: 1995 Dec Journal Volume: 22 Page Numbers: 1720 through 1727 Country of Publication: UNITED STATES Language of Article: Eng Type Of Article: JOURNAL ARTICLE Issue/Part/Supplement: 6 ISSN: 0270-9139

American Liver Foundation Progress Newsletter-Special Double Issue Vol. 17, No. 2/Fall 1995-Winter 1996

Non-Federal Hospital Charges For Liver Diseases in 1994 for Patients Under 18 years of Age Page 16-Progress Medical Term/Hemochromatosis (Iron Storage) Average Patient Charge=$19, 078.00 Total U.S. Hospital Patients=587 Total Charges=$10,066,501.00

Reprinted with permission. (c) 1996 American Liver Foundation

Children HHelping Children: AHS National Screening Project

Dubbed the “Iron Angel” by those whom she has helped, Sandra Thomas, President/Founder for American Hemochromatosis Society, Inc (AHS) has started a national project called Children HHelping Children. The mission of the project is to screen, diagnosis, and treat children with hereditary hemochromatomsis (HH), or iron overload, and to increase public awareness and physician education in this area of medicine.

Hereditary hemochromatosis (HH), in which the body accumulates too much iron from a normal diet, is the most common genetic disease in the United States. Hemochromatosis is transmitted by an autosomal recessive gene and causes excess iron to be stored in vital body organs including the heart, liver, pancreas, and joints. First identified in 1865, HH is potentially fatal but easily treatable if detected early and treated aggressively.

The Centers for Disease Control (CDC) stated in the November 15th, 1996 issue of Morbidity and Mortality Weekly Report, Vol. 45/No. 45 (MMWR), that “Approximately, 1.5 million persons in the United States are affected by iron overload diseases, which are primarily caused by hereditary hemochromatosis–the most common genetic disorder in the United States.”

The Children HHelping Children project advocates screening children 2 years and older with biochemical tests–transferrin saturation and serum ferritin–as well as DNA testing using a simple “cheek brush”, similar to a mascara wand. The biochemical tests show if the child is clinically iron overloaded and the DNA test shows if the child has the single or double gene for HH and therefore help predict the possibility of iron storage disease during the child’s childhood or adulthood. By knowing the genetic status of the child, the pediatrician can closely monitor the child’s iron storage status to make sure that dangerous levels of iron are not accumulating in the child’s body, mainly the heart, liver, and pancreas. Treatment for adults is bloodletting, phlebotomy, identical to a blood donation. Children are treated in the same manner, with the amount of blood removed being determined by the weight of the child.

Thomas, who is a carrier of the single HH gene which she inherited from her mother, Josephine Thomas, who has HH, became interested in iron overload in children during the Centers for Disease Control (CDC) Iron Conference held in Atlanta in March 1997. At this international meeting, which attracted the leading HH doctors and researchers, she heard comments by many in attendance that the incidence of clinical iron overload in minor children was very small and that no standard of treatment existed for these children.

Children can also have acquired or secondary hemochromatosis from multiple blood transfusions or iron loading anemias. Because these children cannot be bled, they are treated with a drug called Desferal which is infused over a period of hours on a daily basis to chelate the iron out of their bodies. Bloodletting, however, is a far more effective treatment for iron overload and is usually preferred by doctors for hereditary hemochromatosis in children.

Thomas, who works with more than 800 HH patients on the Internet, already knew of one 14 year old child in her own database with clinical iron overload who had been phlebotomized since he was 11 years old and tolerated it well. She felt that this child represented the “tip of the iceberg” concerning children with this disease. With a genetic prevalence of 1 in 8 as heterozygotes, or “silent carriers” of the single gene and 1 in 200 as homozygotes, or double genes, she knew that many children potentially could have clinical iron overload.

She collected all of the medical literature that she could find on hemochromatosis in pediatric patients and discovered several scientific reports from 1987 to 1992 which described dozens of children with clinical iron overload. Some of the children were successfully treated with phlebotomy treatment, but others, who did not receive treatment at all, or were diagnosed late in the course of the disease, died from heart and liver failure.

Knowing that HH is preventable in adults as well as children, Thomas contacted several pediatricians around the country and world who were also very interested in working with her on the Children HHelping Children project. She contacted Yigal Kaikov, MD, a pediatrician at the British Columbia’s Children’s Hospital in Vancouver, British Columbia, Canada. Dr. Kaikav, whose report on three siblings with HH appeared in PEDIATRICS in 1992, was supportive of Thomas’ interest in HH in children and encouraged her to continue her search for children with HH.

“Now that there is a painless, bloodless, needleless test kit for HH DNA that can be performed in the privacy of your own home by mom or dad, it will be easy for parents to have themselves and their children tested for this potentially deadly but easily treatable disease which can strike during childhood or may wait until adulthood,” Thomas stated. “Parents can know if their child has the gene in just a few days; and, with a sensitivity of 87% to 100%, this is a great way to complement the biochemical tests.”

According to the medical journals, deaths in children appear to be stemming from heart failure, even more than liver disease such as cirrhosis, or hepatoma, which are the leading causes of death in adult HH patients. The literature further suggests that children in high risk groups who have conditions such as arthritis, diabetes, cardiac or liver disease, should be screened for HH.

Since March of 1997, Thomas has found 17 children who are clinically iron overloaded and who also have the double hemochromatosis gene that can lead to the full blown disease of symptoms, organ damage, and death. Her goal is to find as many HH children as she can by the end of the year so that she can report on these children to doctors around the country about the prevalence of HH in pediatric patients in order to raise awareness for physicians treating children. “We know that children tolerate the life-saving phlebotomy treatment well and those who are diagnosed with this DNA test will be able to pass the knowledge we gain to the children of future generations; that’s why I named it, Children HHelping Children, ” Thomas added.

“Everyone has heard of children taking too many iron pills and getting ‘iron poisoning’. Just think of hereditary hemochromatosis as the genetic “iron overdose” disease…it’s genetic but it isn’t ‘acute’ poisoning as in iron pill ingestion, but the end result of death is the same, it just takes longer,” Thomas warned. “With early detection of the HH gene and early diagnosis of the clinical disease through proper bloodwork, transferrin saturation and serum ferritin, the child can be treated and preventive medicine practiced. The child’s life will not only be saved but he/she will be given a chance at full life expectancy. This is truly a ‘good news’ disease; there’s something you can do to prevent the organ damage and premature death that it can cause if undetected.”

Persons planning to have children should consider genetic testing to see if they may carry the HH genes. Researchers agree that having the HH gene does not contraindicate having children. Newborn screening and routine population screening of adults are other programs that Thomas is advocating. “It will happen some day, but I’d like to see it happen sooner than later.”

For more info please email: mail@americanhs.org or call: 407-829-4488

Web site: /www.americanhs.org

To order no blood/no needle, painless DNA genetic test kits for children, please go to:

www.healthcheckusa.com  or call Health Check USA at: 1-800-929-2044.  Ask for the DNA genetic test kit with the cheek swabs.  A kit will be mailed to you home where the inside of the child’s mouth is painlessly rubbed with the swab (looks like a mascara wand).  Results are ready in 48 hours of the receipt of the sample.