Genetic Disorders: Beta Thalassemia

Anemia is a medical condition defined as having low amounts of red blood cells, thus transporting low levels of oxygen in the blood. Common symptoms include fatigue, weakness, and shortness of breath. Causes for anemia vary, depending on the severity and duration of illness. Regular anemia can result with low levels of iron in the blood. (Mayo Clinic, 2014)

Thalassemia is a blood disorder transferred through families. It occurs when the body makes less hemoglobin than needed or an unusual form of hemoglobin. Hemoglobin is the protein in red blood cells that carry oxygen. The disorder makes an excessive amount of destruction of red blood cells. This eventually leads to anemia.

The interorbital features method utilizes a specialized coordinate caliper called a simometer (see Appendix I for image) and involves a set of six measurements taken from the midfacial skeleton, followed by computation of three indices: maxillofrontal, zygoorbital, and alpha. The three indices are calculated by dividing three breadth measurements into their corresponding subtense measurements, then multiplying by 100 (Gill et al. 1988). The six measurements as described by Gill et al. (1988) are summarized in detail below, and images of the technique follow (Figure 1).

People with this condition are requiring a careful medical management to stay healthy and avoid complications of the illness and often require blood transfusions during significant illness or pregnancy (Children's Hospital Boston). Beta Thalassemia major originally called Cooley's anemia, is the most severe form of beta Thalassemia. It is caused by significant mutations on both of the beta chains. Patients with this illness require frequent blood transfusions to survive. They also require chelating therapy to remove excess iron that can build up in their bodies and cause extensive damage (Children's Hospital Boston).The symptoms of this type include fatigue and weakness, pale skin or jaundice, protruding abdomen with enlarged spleen and liver, dark urine, and abnormal facial bones and poor growth (Clinaero, n.d.).

These anomalies can happen when each parent passes down heredity chromosomes to offspring, in which the mutated gene is present. Chromosome 11 controls the subunit for beta globin. Sickle cell anaemia modifies chromosome 11 as a result of the alteration of the 6th position in the normal beta chain (refer to figure 2). This mutation causes the amino acid, glutamic acid, to be replaced with valine, which causes the sickle cell disorder. This base change alters the biconvex structure of the haemoglobin (red blood cells) to a crescent shape at low oxygen levels. These unnatural crescent-shaped haemoglobin can easily cause blockages in small blood vessels and arteries, which stops or slows the flow of blood to nearby tissues. Depending on if one or two beta globin are affected by the mutation, the afflicted can either be an autosomal heterozygous carrier (one beta globin) or homozygous recessive (two beta globin).

Plan: Analgesics – continue with Nonsteroidal anti-inflammatory drugs (NSAIDs) to take along with muscle relaxants e.g. Benzodiazepines (Aguirre, Nevidjon, & Clemens, 2008). Tricyclics, opioids, and steroids may also come into play. Apply moist heat and massage of jaw muscles. X-ray may show at rest and hinge movement of the TMJ. CT scan demonstrates greater detail of facial bones and MRI is a good choice when looking for displacement or pathological source. A nerve block is helpful whether pain comes from the TMJ or not. If all other non-surgical treatment fails, arthroscopy, condylotomy, disc repositioning, and discectomy are possible procedures proven to reduce pain 90% of patients who have gone through any of the said surgeries (Robinson & Holm, 2010). When skeletal problems are not obvious and masked by orthodontics, the patient’s teeth and jaws will continue to be unstable and L.A. will continue to suffer. Her bite, because of the position of the teeth and the shape of the skull or jaws will require orthognathic surgery to correct this level of deformity found in both dental and skeletal problems (Robinson & Holm, 2010). Her orthodontist and surgeon will be working hand in hand during the course of the

There are a variety of classifications of diabetes, which include Type 1 diabetes, Type 2 diabetes,

There are three versions of congenital dyserythropoietic anemia, and they are classified by types, they all have different signs and symptoms and also have different genetic effects. CDA type I, ranges from severe to moderate. Most of the time, this type of anemia is diagnosed as a child or during adolescence. However, in some cases CDA type I may be detected even before birth during gestation. Individuals that have CDA type one often have Jaundice or yellowing of

Diamond-Blackfan Anemia (DBA) is a bone marrow disorder which typically causes low red blood cell counts without affecting other blood components such as white blood cells or platelets. About half of people affected have an assortment of birth defects such as craniofacial abnormalities, limb abnormalities, and cardiac defects. Other common signs of DBA are infants born with only 11 ribs, an abnormality of genitals or urinary system or missing thumbs. DBA is usually identified in infants by low birth weight and a delay in growth. Infants born with DBA are much more likely to get leukemia than those born without. DBA is caused by an inherited

However, the gingival margin indicated that Mr. Jay-jay has recession on tooth # 5, 6,7,8,9,10,11,12,13,14&15, all in the direct facial aspect of the tooth. The gingival margin of the upper arch range from 1mm to 4mm. Not as much recession on the lingual aspect of those teeth it there were only 1mm shown on the direct lingual of those teeth.

Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body. It is a type of sickle cell disease. Affected people have a different change (mutation) in each copy of their HBB gene: one that causes red blood cells to form a "sickle" or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can

People who have Alpa and Beta Thalessemia trait have mild anemia. Most people are asymptomatic except feeling of tiredness.

Many people every year find out that they have some sort of genetic disease. Genetic diseases affect an estimated 12 million people and their families. According to Mayo Clinic Staff: Albinism, among all the genetic diseases one of the most uncommon is Albinism, which has less than 20,000 cases in the U.S. per year. Albinism is an inherited disorder that produces little or no pigment due to no melanin. This is one of the genetic diseases that can be self diagnosed although, there are tests available for a professional to diagnose for further precaution. Albinism is a disease that can last for years (which is very rare) or a life time because there is ultimately no cure. Albinism is a very rare disorder that

Background: the proportion of teeth is related to facial coordination. If the width length ratio is large, the shape of the teeth will look square, and if the ratio is close to 1, then the teeth will look close to the square, more suitable for round faces. Conversely, if the width ratio is too small, then the tooth shape is more slender, more suitable for longer face type crowd. The width of the crown of the front teeth can be extended to determine whether the proportion of teeth is appropriate and whether or not it needs improvement. Crown to root ratio is the most direct index to describe the anatomic morphology of teeth, and has a great reference value for guiding the work of oral clinicians and treating dental diseases. The morphology of

The palatal rugae count in the current study showed a statis-tically significant difference between both genders in the Saudi population, with a higher incidence in males (Table 1). This conforms with the results of Shetty et al on Mysorean and Tibetan populations, who found