Author(s): Mallikarjuna Shetty1, Naval Chandra2, Krishna Prasad Adiraju3, Nageswara Rao Modugu4, Sai Shivani Ranga5, Sneha Sala6, Saisubrahmanyam Pappu7, Uday Kumar Karnati8
Sickle delta beta thalassemia is a rare genetic disorder, with varied symptoms,
signs, requiring careful monitoring for potential complications. It is due to sickle
mutation and thalassemia mutation occurring together, with sparse data available
worldwide. The purpose of this study was to assess the clinical and laboratory
profile of possible sickle delta beta thalassemia.
The study design is retrospective analysis of clinical information of those selected
patients done in our multi-specialty tertiary care referral hospital situated in
Telangana state in south India. The case material was collected from December
2017 to December 2019 (2 years duration). All haemoglobin electrophoresis
reports were collected with no prior blood transfusions in preceding 4 months.
The information collected was analysed and presented.
Total 9 patients were diagnosed as possible sickle delta beta thalassemia, with
male to female ratio of 5 : 4 and age ranging from 12 years to 45 years of age.
The commonest symptoms were joint pain and jaundice in 5 patients and sign
was splenomegaly in 2 patients. Ultrasonogram of abdomen showed that 3
patients had gall stones, 1 patient had gall bladder sludge, 1 patient had autosplenectomy
and 3 patients had splenomegaly. Mild to moderate anaemia was
seen with reticulocytosis, sickling test positive in all patients, with haemoglobin in
the range of 5.5 g/dl to 12.7 g/dl. 3 patients had iron over load, 2 patients had
hepatopathy, 5 patients had unconjugated hyperbilirubinemia, Acute chest
syndrome, hepatic necrosis, and nephropathy was seen in 1 patient each.
Haemoglobin electrophoresis showed Hb S was from 46.1 % to 76.4, Hb A from
5.3 % to 34.7 %, Hb F from 4.8 % to 22.7 %, Hb A2 from 1.5 % to 3.3 %. 2
patients were treated with hydroxyurea. 2 patients had mutation analysis
elsewhere that was reported as compound heterozygous for β-globulin gene for
Hb S (GAG-GTG) and IVS 1 - 5 (G-C).
Sickle delta beta thalassemia presents as mild to moderate anaemia haemolysis,
splenomegaly with vaso-occlusive crises. Hydroxyurea may help in the treatment.
Genetic analysis helps in diagnosis and future therapies.