Maria K. is the daughter of Greek Cypriot parents. Her birth and early infancy w
ID: 3475304 • Letter: M
Question
Maria K. is the daughter of Greek Cypriot parents. Her birth and early infancy were unremarkable. By about 8 months of age, however, she began to appear pale and showed signs of poor growth. At age 6 years, she was admitted to the hospital for the third time. She was stunted and had various skeletal abnormalities, some apparent (e.g. bossing, or protuberance of bones, of the skull) and others manifest in x-rays (thinning of bones). She was very pale. Her liver and spleen were enlarged. She was grossly wasted. Her 3-year-old brother shows similar symptoms. Based on the information on this,
1. What is your diagnosis?
2. What is the cause of the disease?
3. What causes the symptoms associated with the disease?
4. What are possible treatments for the disease?
Maria K. - Laboratory Results
Hemoglobin = 6.6 g/dl (normal = 12 - 13 g/dl)
Hematocrit = 19% (normal = 40 - 50%)
Reticulocytes = 17% (normal = few)
Nucleated red cells = 5.5% (normal = few)
Red cells are hypochromic and microcytic.
Electrophoresis of Hemoglobin showed 57% Hb A, 3% Hb A2, and 40% Hb F.
Maria’s parents may each have a mild anemia, but no treatment is required.
The patient's red cells (and nucleated cells) were washed and incubated with a mixture of amino acids containing 14C-labeled leucine for 30 minutes. The cells were then lysed and the hemoglobin purified by dialysis and column chromatography. The mixed tetramers were then separated into individual monomer chains in urea solution and fractionated by gradient elution chromatography.
Patient 2 Control 10 20 30 Fraction no.Explanation / Answer
1.She is suffering from beta Thallesemia.
2. It involves decreased production of normal adult hemoglobin (Hb A), the predominant type of hemoglobin from soon after birth until death. In persons with beta thalassemia, there is reduced or absent production of beta globin chains.
3.At birth the baby with thalassemia major seems entirely normal. This is because the predominant hemoglobin at birth is still fetal hemoglobin (HbF). HbF has two alpha chains (like Hb A) and two gamma chains (unlike Hb A). It has no beta chains so the baby is protected at birth from the effects of thalassemia major.
Anemia begins to develop within the first months after birth. It becomes progressively more and more severe. The infant fails to thrive (to grow normally) and often has problems feeding (due to easy fatiguefrom lack of oxygen due to the profound anemia), bouts of fever, diarrhea, and other intestinal problems.
4. The child with thalassemia major becomes dependent on blood transfusions and, although they do help, they create further problems including iron overload. Folic acid supplementation is often given. At this time, the primary treatments are directed at relieving symptoms of the illness. Selected patients may qualify for bone marrow or stem cell transplants. Gene therapy remains a potential treatment for the future.
It is expected tht it can be cured by insertion of the normal beta-chain gene through gene therapy or by another modality of molecular medicine.