Alpha-thalassemia can be mistaken for iron-deficiency anaemia on a full blood count or blood film, as both conditions have a microcytic anaemia. Serum iron and serum ferritin can be used to exclude iron-deficiency anaemia. Types
Two genetic loci exist for α globin, thus four alleles are in diploid cells. Two alleles are maternal and two alleles are paternal in origin. The severity of the α-thalassemias is correlated with the number of affected α-globin alleles: the greater, the more severe will be the manifestations of the disease. When noting the genotype, an "α" indicates a functional alpha chain, and - a pathological one. Laboratory diagnosis
The ability to measure hemoglobin Barts makes it useful in newborn screening tests. If hemoglobin Barts is detected on a newborn screen, the patient is usually referred for further evaluation since detection of hemoglobin Barts can indicate either one alpha globin gene deletion, making the baby a silent alpha thalassemia carrier, two alpha globin gene deletions (alpha thalassemia), or hemoglobin H disease (three alpha globin gene deletions).Deletion of four alpha globin genes was previously felt to be incompatible with life, but there are currently 69 patients who have survived past infancy. All such children too show high level of hemoglobin Barts on newborn screen along with other variants.Post-newborn ages, initial laboratory diagnosis should include a complete blood count and red blood cell indices. As well, a peripheral blood smear should be carefully reviewed.
Ischemic fasciities (IF), also termed atypical decubital fibroplasia or decubital ischemic fasciitis, is a rare pseudosarcomatous (i.e. easily mistaken for a sarcoma) tumor. It was first described by E. A. Montgomery et al. in 1992. This tumor typically forms in the subcutaneous tissues (i.e. lower most tissue layer of the skin) that overlie bony protuberances such as a hip in individuals who are debilitated and bed-ridden.Microscopically, IF lesions consist of proliferating, atypical fibroblasts and/or myofibroblasts. The lesions were initially regarded as non-neoplastic proliferation responses of these cell types to long-term tissue pressure or trauma. More recently, however, the World Health Organization, 2020, defined IF lesions as neoplasms, i.e. tissue growths which are uncoordinated with that of the normal surrounding tissue and persist in growing even if the original trigger for their development is removed. The Organization formally classified IF lesions as belonging to the category of benign fibroblastic and myofibroblastic tumors.The treatment of choice for these often disfiguring, uncomfortable, and/or painful IF tumors is generally conservative, local surgical excision. It is critically important that these benign tumors be distinguished from other fasciitis tumors as well as certain sarcomas which can be highly invasive and/or malignant and therefor require far more aggressive treatment. Presentation
In the original study of IF, individuals diagnosed with the disorder were women (16 cases) or men (12 cases) age 15 to 95 years; In a more recent study, diagnosed individuals were women (15 cases) or men (29 cases) aged 23–96 years old.