Thalassemia is a genetic disorders that are characterized with chronic anemia. The disease is cause from the gene that control hemoglobin production. Hemoglobins are proteins that are the major components of red blood cell. Human carries mutation of thalassemia genes may be asymptomatic or have mild anmia, or severe until they died before birth.
In Thailand, a south east Asian country, there are more than 30 percent having one mutated hemoglobin genes. We call this group as carrier. They will be healthy and asymptomatic, but they can inherited their mutated gene to their offsprings. If their couples are also the same type carriers, their off springs have chance to have mutated genes both from thier parents that will produce diseases. The number of thalassemia patients in Thailad is about 600000.
And each year, couples at risk (both are carriers) give thalassemic baby for more than 10000 annually.
Ther are two common type of thalassemia in Thailand: alpha-thalassemia and beta-thalassemia.
In general, everyone are inherited the genetic materials half from their father and the rest from their mother. Thalassemia is a disease transfered in recessive fashion, which means that you must have mutated genes from both parents to have disease. Besides, the mutation must be on the same gene. For example, alpha-thalassemia gene mutation should pair with alpha-thalassemia gene mutation to produce alpha-thalassemia patients. Who have one mutated gene of beta-type and onother mutated gene of alpha-type are healthy.
Thalassemia is the result of decreasing production of hemoglobin leading to unbalanced between each type of hemoglobin. In normal, two chain of alpha hemoglobin will be paired with two chains of beta hemoglobin. In the non-balancing situation, the excess hemoglobin will be aggregated and cause changing of red cell shape and vulnerability. red cell will be survived less, be easily destroy. These all lead to chronic anemia. Organ that produce red blood cell i.e. bone marrow, liver, and spleen have to be expanded for increasing production rate, so we will see these patients have a big and tall skull, fragile bone, big liver, big spleen. In severe cases, this occured early in thier life, and inevitable cause of death in their toddler. Milder case will be survived to their teen with regular blood transfusion. The drawbcak of blood transfusion is the iron stored in the blood cell will be accumulated in patient's heart, liver, skin, pancreas, and so on lead to malfunction of that organs that are fatal if lefted untreated. Nowadays, in the most severe type that will be dead before birth, we have technology to test the fetus and termination before birth or have complication will be done if test positive. In severe birth infants, we can treated with bone marrow transplantation, but this is a very expensive methods and there is a high death rate from this procedure and not everyone can performed these due to unmatched tissues. Milder case will receive regular blood transfusion to prevent abnormal growth and bone change, and iron-chelator will be given to prevent long term complication for iron-excess. Prevention is more appropriate practice, and prenatal screening method is the one of most success genetic project in our country. In the future , next four or five generation, we will have less thalassemia patients.

Common situation in genetic counseling

Today, a medical student asked me about her relative was pregnant and she found that her baby had thalassemia from the prenatal screening. Her doctor gave her a chance to terminate the pregnancy. This student shown me the genotype: Hb Malay (Mutation at codon 19)/ Hb E. This is called compound heterozygotes, in contrary to double hetrozygotes that have mutation on different genes. To answer this question, we should know about the severity of phenotypes, effect to mother.Fortunately, thalassemia is one of the most common and the most throughly study genetic diseases, so we have some information to cope with that. But genotype-phenotype correlation is not an easy issue, there are many factors beyond the mutation itself to correctly predict that. Like these situations, Hb Maly/Hb E infants are not severe (thalassemia intermedia), but the characteristics are widely range from asymptomatic, need some blood transfusion or more frequent need of blood transfusion until required iron chelating therapy or splenectomy in mid-life. There is no specific curative treatment for this group, while beta thallassemia major is so severe and will be died in first two or three years of life, so high mortality-procedure dependent like bone marrow transplantation is accepted.
So the best recommendation for this situation is give all the informations needed to make a good decision for those counselee i.e. severity of baby, effect for pregnancy, treatment plan for baby, side effect of termination, choices, etc. And let the families making their own decision because they have to know what is the best way for their future life. Don't use our standard, believes, social issues to force or coercion them.

Pain in the back, blood in the urine

Have anyone heard about ADPKD (autosomal dominant polycystic kidney disease), one of the most common genetic disorders in the world?
It is the disease of the kidneys, the pea-shape pairs organs, weight about 10 ounces each, in the back of the body on each side of your backbone. They filter your blood and produce urine to remove waste that we produce every day. They also regulates your blood chemicals and acid-base status. The other functions of them is regulation of blood cell production response to body need, produce active vitamin D for helping in calcium absorption to strengthening your bones. If they are severe damage or nearly loss of their function from any causes, so called kidney failure, you will become weakness, loss of energy, shortness of breath, nausea/vomiting, swelling, and even leading to death if kidney replacement such as dialysis, or kidney transplantation is performed. But if they loss only part of their functions, you may not have any symptoms. The most common causes of kidney failure are diabetes and hypertension, which affect adult and elderly and immune-mediated kidney dieases and ADPKD are the more common causes of kidney failure in teenage or young adults.
ADPKD is a kidney diseases characteristics with multiple, various in sizes, growing in both kidneys. The diseases are inherited from parents in a dominant fashion, that means when only one affected father or mother can produced offsprings with ADPKD ( risk is 50%). The defected gene is in every cells of the child since their birth, but usually cysts are gradual develop in their tens or twenties. The patients may come to medical attention by many presentations such as back pain, blood in urine, hypertension, mass in your belly, infection of urinary tract or accidental finding on other health problem unrelated to the disease.
The cysts will grow until they compress normal kidney tissues and this will lead to kidney failure in their 40s-50s. The patients will died if dialysis, or kidney transplantation is not given in time.
The dianosis can be made by perform the imaging study of the kidneys such as ultraasound or CT in patietns suspected to be ADPKD (previous lists of symptoms and family members affected with the same problems) or in family members of ADPKD. Molecular testing can be performed in some families to diagnosis presymptomatic and precyst formation family members.
Treatment of pain, infection and hypertension may alleviate the symptoms and slow down the groth rate of cysts. Due to its serious complications and they are quite common as high as 1 in 1000 birth, this is one of the most active research area to find the drugs to stop progression of diseases.
And we are nearly at that times to treat genetic diseases with simple drugs.
See more information of ADPKD in PKD foundation websites

Down Syndrome

Introduction
Human cells normally contain 23 pairs of chromosomes. Chromosomes are the parts of body cells that carry inherited information - the characteristics that are passed to you from your mother and father.
A chromosomal disorder means there is a change in the normal number of chromosomes. This can mean that physical and mental development is impaired and can result in learning difficulties and health problems.
Downs Syndrome is the most common chromosomal disorder and one of the most common causes of learning difficulties.
Named after the first person that described it, Dr J L Down, the condition affects one in every 1,000 people. Some are more severely affected than others.
Around 600 babies with Downs Syndrome are born in the UK every year. It occurs in all ethnic groups and affects slightly more boys than girls.
Symptoms
People with Downs Syndrome have lots of different characteristics.
There are thought to be up to 120 features of Downs Syndrome but many children have no more than six or seven of them.
Physical features:

Babies with Downs Syndrome usually weigh less than average at birth and are usually shorter than average as adults.

Children with Downs Syndrome often have a rounded face, with a flat profile (the face looks flat when you view it from the side). The back of the head is slightly flattened (this is called brachycephaly) and the eyes tend to slant upwards.

There are small folds of skin that run vertically between the inner corner of the eye and the bridge of the nose (epicanthic folds) and this can give the impression of crossed eyes (squint). There may be white or yellow speckling around the rim of the iris (coloured part of the eye). These are called Brushfield spots.

Children with Downs Syndrome often have straight, soft hair. As children they may have an extra fold of skin over the back of the neck and as adults, short broad necks.
People with Downs Syndrome often have smaller than average mouths with a bigger than average tongue that may stick out.

The hands may be broad with short fingers; the little finger may only have one joint instead of two and be slightly curved. The feet are often stubby with a wide space between the first and second toes.

Many people with Downs Syndrome have poor muscle tone (hypotonia). This muscular floppiness occurs in the limbs and neck and usually improves with age.

Children with Downs Syndrome learn new skills more slowly than other children and generally develop at a slower rate, meeting their developmental milestones such as walking or talking later. They may progress in stops and starts and may not fully catch up with other children their age. Often, a child with Downs Syndrome will not start to use language until his or her third year and may use some sign language before talking.

With treatment and support, the average life expectancy of someone with Downs Syndrome is about 60 years.

Mother aged more than 35

Is is safe to be pregnant after 35?
While advances in medical care can help women over age 35 have safer pregnancies than in the past, health complications for this age group are higher than for younger women. If you have decided to delay having a child, you should understand the risks associated with this so you can take precautions to minimize risks and improve your chances for a healthy pregnancy and child.


Do I Have a Greater Risk of Having a Child With a Birth Defect if I'm Over 35?
The risk of giving birth to a child with a birth defect does increase as the mother's age increases. This is probably due to abnormal division of the egg, called nondisjunction. The traditional age at which a woman is considered to be at high risk for chromosomal abnormalities is 35. Approximately 1 in 1,400 babies born from women in their 20's have Down syndrome; it increases to 1 in 100 babies born with Down syndrome from women in their 40's.

Genetic counseling

main elements of geneticc counseling
1. Diagnostics and clinical aspects
2. documentation of family and pedigree information
3. recognition of inheritance patterns and risk estiation
4. communication and empathy with those seen
5. information on available options and further measures
6. support in decision-making and for decisions made

An educational process that seeks to assist affected and/or at risk individuals to understand the nature of the genetic disorder, its transmission and the options open to them in management and family planning

Issues for Genetic couseling

Non directive counseling
Pedigree analysis
Accurate diagnosis
Knowledge about disease
Truthfulness
Concern for individual
Risk assessment
Discussion about the risk
Discussion about disease and etiology
Reproductive options
Communication skills
Confidentiality
Management options
Help patients to make decisions
Psychosocial support
Support groups