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.

Pesronal genome management

There are 160m Americans looking for health information online and somewhere in the realm of 10–30% of those are viewing and creating their own content. But that has made moderate impact on the mainstream press (with Laura Landro being an honorable exception). So it was a little surprising to see both the WSJ and the NY Times feature a related issue in the last week—online genetic screening.

Suddenly the concept of getting your genome tested and laid out online is really hot. 23andme (with its Google connection and Esther Dyson on the board) and Navigenics (with Kleiner Perkins and MDV as blue chip VCs in a $25m round) are the two best known west coast players. 23andme has already found out that Warren and Jimmy Buffet are not related and you can go to their site and sign up for their service for under $1,000. (And learn lots more about it in this Wired article) But they’re not alone. In Boston, Knome is gearing up for something similar and Icelandic company DeCODE genetics, which already has a database with the island’s entire population in it, has also introduced a similar service called DeCodeMe.
And of course there’s The Personal Genome Project. It’s an effort led by George Church and includes 10 people who are putting all their genetic information online. (One is Esther Dyson of course)

Meanwhile, plenty of other companies are doing genetic testing mostly on genealogy grounds. The Genetic Genealogist Blog estimates that some 600,000 tests have been done and they are worth about $300 each. but for an annual market, that’s only $25m. The Genetic Genealogist Blog also has a long list of those genetic companies.
Finally, while there’s all this excitement about doing comprehensive DNA testing, DNADirect has been offering a direct to consumer service for a couple of years which offers the most common tests. You can see their price list here. One estimate which seems in the ball park is that the total market for that testing is $200m.

Achodroplasia

What is achondroplasia?
Achondroplasia is a disorder of bone growth. Although achondroplasia literally means "without cartilage formation," the problem is not in forming cartilage but in converting it to bone, particularly in the long bones of the arms and legs.
All people with achondroplasia have short stature. The average height of an adult male with achondroplasia is 131 centimeters (4 feet, 4 inches), and the average height for adult females is 124 centimeters (4 feet, 1 inch). Characteristic features of achondroplasia include an average-size trunk, short arms and legs with particularly short upper arms and thighs, limited range of motion at the elbows, and an enlarged head (macrocephaly) with a prominent forehead. Fingers are typically short and the ring finger and middle finger may diverge, giving the hand a three-pronged (trident) appearance. People with achondroplasia are generally of normal intelligence.
Health problems commonly associated with achondroplasia include episodes in which breathing slows or stops for short periods (apnea), obesity, and recurrent ear infections. In adulthood, individuals with the condition usually develop a pronounced and permanent sway of the lower back (lordosis) and bowed legs. Older individuals often have back pain, which can cause difficulty with walking.
How common is achondroplasia?
Achondroplasia is the most common type of short-limbed dwarfism. The condition occurs in 1 in 15,000 to 40,000 newborns.
What genes are related to achondroplasia?
Mutations in the FGFR3 gene cause achondroplasia.
The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. This protein limits the formation of bone from cartilage (a process called ossification), particularly in the long bones. Two specific mutations in the FGFR3 gene are responsible for almost all cases of achondroplasia. Researchers believe that these mutations cause the protein to be overly active, which interferes with skeletal development and leads to the disturbances in bone growth seen with this disorder.
How do people inherit achondroplasia?
Achondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 80 percent of people with achondroplasia have average-size parents; these cases result from a new mutation in the FGFR3 gene. In the remaining cases, people with achondroplasia have inherited an altered FGFR3 gene from one or two affected parents. Individuals who inherit two altered copies of this gene typically have very severe problems with bone growth, and are usually stillborn or die shortly after birth from respiratory failure.