Gorovitz & Borten, P.C.
Attorneys at Law

550 Cochituate Road, Suite 25
Framingham, Massachusetts
Tel: (781) 890-9095
Sicke Cell Disease
Sickle cell disease is an inherited illness which denotes all genotypes that contain
at least one sickle gene in which hemoglobin S (HbS) makes up at least half of the
circulating hemoglobin. Sickle cell disease is a chronic hemoglobinopathy with
significant morbidity and mortality. This genetic disease affects particularly persons
of African and Mediterranean ethnicity. Sickle cell disease is a genetic autosomal
recessive disorder in which the basic abnormality is the mutation substituting
thymine for adenine in the sixth codon of the beta-chain gene. That produces a
substitution of valine for glutamic acid at the sixth position of the beta-globin chain
in red blood cells. The substitution of valine for glutamic acid creates instability in
the hemoglobin molecule and begins to form semisolid aggregate structures once
the oxygen is unloaded to the tissues.

When red blood cells containing homozygous HbS are exposed to low oxygen
conditions, the sickling process begins. After recurrent episodes of sickling,
membrane damage occurs and causes the red blood cells to change from their
usual biconcave disc shape into an irregular sickled shape. Sickle red blood cells
adhere to the inside lining of the vessels (endothelium) because of their increased
stickiness and contribute to the initiation of vaso-occlusion of vessels. They also
adhere to macrophages which contribute to the hemolytic process.

Complications associated with sickle cell disease include:

  • Anemia
  • Infection
  • Acute chest syndrome
  • Pain
  • Stroke
  • Cholecystitis
  • Swelling of extremities
  • Avascular necrosis of the femoral or humeral head
  • Vision problems
  • Growth retardation
  • Delayed sexual maturation
  • Low weight
  • Ventricular and left atrium dilatation
  • Leg ulcers

Pregnancy is of particular concern in patients with sickle cell disease. Pregnancy is
complicated by:

  • High rate of spontaneous abortion
  • Placenta abruptio
  • Placenta previa
  • Placental infarction
  • Prematurity
  • Low birth weight

In many states, screening for HbS at birth allows identification of affected
individuals for early treatment and control. Prenatal diagnostic tests are available.
They include DNA assessment from a chorionic villus biopsy obtained between 8
and 12 weeks of gestation and DNA assessment in amniotic fluid obtained by
amniocentesis at approximately 16 weeks of gestation.

Individuals that inherit a sickle cell gene from one parent only are classified as
sickle cell trait or carrier. Carriers of sickle cell trait are healthy individuals and do
not change to become a sickle cell disease. When two individuals with sickle cell
trait consider pregnancy, genetic counseling is indicated because the offspring may
inherit two sickle cell genes (one from each parent) and be born with sickle cell

If your child suffers from sickle cell disease and you were not given the option to
undergo screening, genetic counseling and/or genetic testing,
Dr. Borten and the  
Boston area medical malpractice attorneys at Gorovitz & Borten can help you
assert your rights and get the compensation you deserve.
Contact Information
For a free confidential consultation and receive a response within 24 hours (when
possible), please contact us by phone, fax or e-mail with your question or concern.

Telephone:  781-890-9095     -     Fax:   781-890-9098
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