Question

THE FAMILY RETURNS

Dr. Stephens calls Mr. and Mrs. Stamos and asks that they come in for a follow-up visit. is time the parents meet with Dr. Stephens in his office, not in the exam room. After they are seated, Dr. Stephens informs them that Nikoleta’s condition is very serious.

“I am sorry to give you bad news. Nikoleta does have anemia but, unfortunately, giving her a high iron formula was exactly the opposite of what should be done. Nikoleta’s disorder has a genetic basis.”

“But neither one of us has any of the problems Nikoleta has. We aren’t tired all the time. We work out every day,” replies Mr. Stamos.

“ That’s a very good thing, and it has probably helped to keep you and your wife healthy. You both have a much milder form of anemia. Unfortunately, Nikoleta’s condition is more severe.”

Dr. Stephens continues, “Nikoleta has what is known as beta-thalassemia, which is also called Cooley’s anemia. Do you remember when I spoke with you about hemoglobin and how it functions to carry oxygen? Well, there are two types of hemoglobin proteins involved in the process of carrying oxygen, alpha and beta. You need both of them in order to have properly working hemoglobin. Nikoleta’s beta proteins don’t function correctly. I have spoken to Dr. Jeff Williams, a hematologist who specializes in childhood disorders of the blood. Nikoleta’s condition is very grave and it has a high mortality rate. Her life span may be significantly shortened. Dr. Williams is the best specialist in this area and I believe he will give her the best care possible. He will keep me informed of Nikoleta’s progress. Meanwhile, Nikoleta will still need to see me for her regular checkups. Also, I don’t know what you are considering for the future of your family, but because of these findings, I suggest that you see a genetic counselor before deciding to have another baby. A genetic counselor will give you all the information about how beta-thalassemia is transmitted from parent to child so that you can make an informed decision about having more children naturally.”

FINAL QUESTIONS

Add the answers to these questions to your Google Doc that you have already made.

8. What are the general features of this disease?
9. What is the structure of hemoglobin and how is oxygen bound to it?

10. What are some possible treatments that Dr. Williams will suggest?

11. If you were the genetic counselor, what would you suggest to Mr. & Mrs. Stamos concerning having more children? Why?

Answer 1

8.The general features of the disease are:

• It is one of the most severe inherited blood disorders.
• It passess to the offsprings from the parents' genes.
• It is one form of anemia which confirms low blood hemoglobin.
• It follows autosomal recessive pattern of inheritance.
• It is inherited by offpsring when both parents' possess the carrier genes.

9.Hemoglobin structure :It consists of four heme groups surrounded by a globin group forming a tetrahedral structure. Heme is formed from a ringlike organic compound called a porphyrin and to this porphyrin ,an iron atom is attached. There are all together four  iron atoms in each molecule of hemoglobin.The globin group consists of two pairs of polypeptide chains linked together.Oxygen is bound to it  via the iron atoms.Since there are four iron atoms, four oxygen molecules bind to each hemoglobin molecule.

10.Possible treatments would include blood transfusions on a regular basis, stem cell transplant or gene therapy to replace the defective genes.

11.If I were the genetic counselor, I would not suggest Mr. & Mrs. Stamos to have more children because it follows an autosomal recessive pattern and the genes if passed from the carrier parents could be fatal for the baby.