Peripheral Blood Smear
Eosin-5-maleimide Binding Test

Common Laboratory Findings
The common findings of lab testing in setting of a patient with hereditary spherocytosis:

Coombs Test: Negative (rules-out autoimmune hemolytic anemia)
Osmotic Fragility Test: Positive (Spherocytes will rupture in liquid solutions less concentrated than the inside of the red blood cell. This is due to increased permeability of the spherocyte membrane to salt and water, which enters the concentrated inner environment of the RBC and leads to its rupture. Although the osmotic fragility test is no longer considered the gold standard for diagnosing hereditary spherocytosis, as it misses ~25% of cases). Acidified Glycerol Lysis Test: Positive (A newer version of the osmotic fragility test that adds glycerol to a hypotonic solution. This produces lysis, a positive test, quicker that the traditional saline version). Supportive blood work:
Mean Cell Volume (MCV): Normocytic (normal range: 80-100fL), or slightly lower. Spherocytes are slightly smaller than normal biconcave red blood cells. Mean Corpuscular Hemoglobin Concentration (MCHC): Increased (normal range: 31-36% Hb/cell). This is secondary to less water being in the cell. Red Blood Cell Distribution Width (RDW): Increased (normal range: 11-15%). The spherocytes create variation in the size of the red blood cells on average, thus expanding the distribution. Red Blood Cell Count (RBC): Sometimes Increased Early (normal range males: 4.3-5.9 million/mm3; normal range females: 3.5-5.5million/mm3). The loss of surface area per cells cause the body to mass produce red blood cells. The spleen will filter spherocytes out and change this value. Reticulocytes: Increased (normal range: 0.5%-1.5% of the RBC listed above).
If the syndrome was found in the family, chances of a second child with the syndrome are 50%, because the syndrome is autosomal dominant. The effect of the syndrome on the child cannot be predictedThe syndrome can be detected with fluorescence in situ hybridization. For parents with a child with the syndrome, it is advisable to consult a physician before another pregnancy. Management
Treatment of cause: Due to the genetic cause, no treatment of the cause is possible.Treatment of manifestations: routine treatment of ophthalmologic, cardiac, and neurologic findings; speech, occupational, and physical therapies as appropriate; specialized learning programs to meet individual needs; antiepileptic drugs or antipsychotic medications as needed.Surveillance: routine pediatric care; routine developmental assessments; monitoring of specific identified medical issues. Prevalence
As of October 2012, Unique, an international rare chromosome disorder group and registry, has 64 genetically confirmed cases of this deletion worldwide. Research
On several locations in the world people are studying on the subject of 1q21.1 deletion syndrome. The syndrome was identified for the first time with people with heart abnormalities. The syndrome has later been found in patients with schizophrenia. Research is done on patients with a symptom of the syndrome, to find more patients with the syndrome.There may be a relation between autism and schizophrenia. Literature shows that nine locations have been found on the DNA where the syndromes related to autism or schizophrenia can be found, the so-called "hotspots": 1q21.1, 3q29, 15q13.3, 16p11.2, 16p13.1, 16q21, 17p12, 21q11.2 and 21q13.3.