Hemoglobinopathies

Hemoglobinopathies

Question 1. Define anemia, enumerate various types of anemia. Discuss in detail about sickle cell anemia.
Answer. For definition of anemia and various types of anemia.

Hemoglobinopathies classification

Oral Manifestations

• Oral mucosa appears pallor.
• Delayed eruption of teeth and hypoplasia is seen.
• Paresthesia of mental nerve can be commonly seen.
• Patients are presented with mongoloid faces, bimaxillary prognathism and high cheek bones.
• Patient is prone to develop osteomyelitis.

Sickle Cell Anemia Management

• Patients should be prevented by being dehydrated, moving to cold or chilly areas or exposed to hypoxia.
• Folic acid 5 mg OD should be given.
• Antibiotics such as penicillin should be given to patients prophylactically to avoid infections.
• No additive analgesics should be given such as aspirin, paracetamol.
• Hydroxyurea can be used in adult patients in severe cases with caution as it has got potential side effects.
• Blood transfusion should be given during sickle cell crisis. In routine, it should be avoided.
• In patients with sickle cell trait genetic counseling is mandatory.

Thalassemia major and minor

Question 2. Write short note on clinical and radiographic features of thalassemia major.
Answer. Thalassemia major is also known as Cooley’s anemia. In thalassemia major, two genes are affected.

Thalassemia Major Clinical Features

• The disease is commonly detected in the first two years of life and siblings are commonly affected.
• Patients often suffer from jaundice with yellowish palor of the skin.
• Fever, chills, marked anemia (microcytic and hypochromic), malaise, generalized weakness and lethargy, etc. are common.
• Hepatosplenomegaly is an important feature of the disease, which often cause bulging of the abdomen.
• Bone marrow hyperplasia often produces painless enlargement of mandible and maxilla, which often results in a typical “chipmunk faces”.
• Cholelithiasis and leg ulcers also develop frequently.
• Reduced oxygenation may lead to severe infections in the tissue.
• Most of the patients have a mongoloid facies with prominent forehead, depressed nasal bridge, prominent cheek bones, protrusion of the maxillary anterior teeth and slanting eyes, etc.
• In severe form of the disease, the onset is in infancy and death often occurs in adolescence. High output cardiac failure is the common cause of death in these patients.
• Repeated blood transfusions may cause iron deposition in tissues (hemosiderosis), which may lead to dysfunction of many glands and other vital organs.

Thalassemia Major  Radiographic Features

• Thickening of skull is present because of increased width of dipole space between the outer and inner tables of vault. This is because of proliferation of hematopoietic tissue. Generalized granular appearance in skull is present.
• Trabeculae which join inner and the outer tables of skull get arranged in calcified spicules which appear as calcified hair and extend between the inner and outer tables, this is known as “hair on end” appearance.
• Presence of generalized thinning of cortical borders.
• Prominent premaxilla causes malocclusion.

Diagnosis of hemoglobinopathies

• Antrum decreases in size due to encroachment of bone formation which leads to effacement of air sinuses.
• Generalized radiolucency, increased width of shaft and narrowing of cortices in long bones is seen because of more quantity of marrow substance. This can also be the pathological fracture.
• Prominent trabeculae are seen which are referred to as “compensatory lamellar striation”.
• Large bone marrow spaces, blurring of trabecula,e and osteoporosis is seen in the alveolar bone. Marrow spaces become large, and trabeculae are large and course.
• Roots of mandibular first molar and central incisors are spike shaped and short. There is a presence of thin lamina dura.