thumb Abdominal pain due to hypersplenism, splenic infarction and right-upper quadrant pain caused by gallstones are major clinical manifestations. However, diagnosing<unk> assemia from symptoms alone is inadequate. Physicians note these signs as associative due to this disease's complexity. The following associative signs can attest to the severity of the phenotype: pallor, poor growth, inadequate food intake, splenomegaly, jaundice, maxillary hyperplasia, dental malocclusion, cholelithiasis, systolic ejection murmur in the presence of severe anemia and pathologic fractures. Based on symptoms, tests are ordered for a differential diagnosis. These tests include complete blood count; hemoglobin electrophoresis; serum transferrin, ferritin, total iron-binding capacity; urine urobilin and urobilogen; peripheral blood smear, which may show codocytes, or target cells; hematocrit; and serum bilirubin. The expected pattern on hemoglobin electrophoresis in people with<unk>  is an increased level of hemoglobin A2 and slightly increased hemoglobin F. The diagnosis is confirmed with hemoglobin electrophoresis or high performance liquid chromatography. Skeletal changes associated with expansion of the bone marrow: * Chipmunk facies: bossing of the skull, prominent malar eminence, depression of the bridge of the nose, tendency to a mongoloid slant of the eye, and exposure of the upper teeth due to hypertrophy of the maxillae. * Hair-on-end (or "crew cut") on skull X-ray: new bone formation due to the inner table. DNA analysis All<unk> s may exhibit abnormal red blood cells, a family history is followed by DNA analysis. This test is used to investigate deletions and mutations in the alpha- and<unk> -globin-producing genes. Family studies can be done to evaluate carrier status and the types of mutations present in other family members. DNA testing is not routine, but can help diagnose<unk> assemia and determine carrier status. In most cases the treating physician uses a clinical prediagnosis assessing anemia symptoms: fatigue, breathlessness and poor exercise tolerance. Further genetic analysis may include HPLC should routine electrophoresis prove difficult.
Beta thalassemia
Thalassemia
Delta-beta thalassemia
Alpha-thalassemia
Sickle cell-beta thalassemia
Paroxysmal nocturnal hemoglobinuria
Diamond–Blackfan anemia
Hereditary spherocytosis